19-18376815-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376815
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376815
    reference: chr 19
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1397C>G
  hgvsp: ENSP00000472912.1:p.Ala466Gly
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1535C>G
  hgvsp: ENSP00000376213.2:p.Ala512Gly
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1535C>G
  hgvsp: ENSP00000470780.1:p.Ala512Gly
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5924
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala512Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-18376816-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376816
    reference: chr 19
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1396G>A
  hgvsp: ENSP00000472912.1:p.Ala466Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1534G>A
  hgvsp: ENSP00000376213.2:p.Ala512Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1534G>A
  hgvsp: ENSP00000470780.1:p.Ala512Thr
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala512Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

19-18376818-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376818
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376818
    reference: chr 19
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1394T>C
  hgvsp: ENSP00000472912.1:p.Val465Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1532T>C
  hgvsp: ENSP00000376213.2:p.Val511Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1532T>C
  hgvsp: ENSP00000470780.1:p.Val511Ala
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5921
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val511Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS

19-18376820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376820
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376820
    reference: chr 19
allele count: 3
allele frequency: 2.475288371095233e-5
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1392G>A
  hgvsp: ENST00000600359.3:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1530G>A
  hgvsp: ENST00000600328.3:c.1530G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1530G>A
  hgvsp: ENST00000392413.4:c.1530G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20891
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser510Ser
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-18376821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376821
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376821
    reference: chr 19
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1529C>T
  hgvsp: ENSP00000470780.1:p.Ser510Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1391C>T
  hgvsp: ENSP00000472912.1:p.Ser464Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1529C>T
  hgvsp: ENSP00000376213.2:p.Ser510Leu
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20893
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser510Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-18376822-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376822
    reference: chr 19
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1528T>C
  hgvsp: ENSP00000376213.2:p.Ser510Pro
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1528T>C
  hgvsp: ENSP00000470780.1:p.Ser510Pro
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1390T>C
  hgvsp: ENSP00000472912.1:p.Ser464Pro
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser510Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

19-18376824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376824
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376824
    reference: chr 19
allele count: 5
allele frequency: 4.125412541254125e-5
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1526G>A
  hgvsp: ENSP00000376213.2:p.Arg509His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1388G>A
  hgvsp: ENSP00000472912.1:p.Arg463His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1526G>A
  hgvsp: ENSP00000470780.1:p.Arg509His
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20891
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg509His
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-18376825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376825
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376825
    reference: chr 19
allele count: 15
allele frequency: 1.237460401267159e-4
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1525C>T
  hgvsp: ENSP00000470780.1:p.Arg509Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1525C>T
  hgvsp: ENSP00000376213.2:p.Arg509Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1387C>T
  hgvsp: ENSP00000472912.1:p.Arg463Cys
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg509Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

19-18376826-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376827
    reference: chr 19
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1523dupT
  hgvsp: ENSP00000376213.2:p.Leu508PhefsTer42
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1385dupT
  hgvsp: ENSP00000472912.1:p.Leu462PhefsTer42
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1523dupT
  hgvsp: ENSP00000470780.1:p.Leu508PhefsTer42
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20896
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu508PhefsTer42
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-18376848-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376848
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376848
    reference: chr 19
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1502T>G
  hgvsp: ENSP00000376213.2:p.Ile501Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1502T>G
  hgvsp: ENSP00000470780.1:p.Ile501Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1364T>G
  hgvsp: ENSP00000472912.1:p.Ile455Arg
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile501Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

19-18376852-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376852
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376852
    reference: chr 19
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1498A>G
  hgvsp: ENSP00000376213.2:p.Met500Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1498A>G
  hgvsp: ENSP00000470780.1:p.Met500Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1360A>G
  hgvsp: ENSP00000472912.1:p.Met454Val
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18232
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met500Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-18376862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376862
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376862
    reference: chr 19
allele count: 3
allele frequency: 2.474430880897394e-5
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1488C>T
  hgvsp: ENST00000600328.3:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1350C>T
  hgvsp: ENST00000600359.3:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1488C>T
  hgvsp: ENST00000392413.4:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20910
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 18156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg496Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/19-18376863-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376863
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376863
    reference: chr 19
allele count: 337
allele frequency: 2.780069295495793e-3
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1487G>T
  hgvsp: ENSP00000470780.1:p.Arg496Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1487G>T
  hgvsp: ENSP00000376213.2:p.Arg496Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1349G>T
  hgvsp: ENSP00000472912.1:p.Arg450Leu
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 9.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6944
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21164
  bin: 9.75e1
  variant carriers: 335
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg496Leu
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-18376863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376863
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376863
    reference: chr 19
allele count: 5
allele frequency: 4.124731892426992e-5
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1487G>A
  hgvsp: ENSP00000376213.2:p.Arg496His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1487G>A
  hgvsp: ENSP00000470780.1:p.Arg496His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1349G>A
  hgvsp: ENSP00000472912.1:p.Arg450His
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21164
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg496His
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-18376867-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376867
    reference: chr 19
allele count: 2
allele frequency: 1.658622348277521e-5
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1483A>G
  hgvsp: ENSP00000376213.2:p.Thr495Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1345A>G
  hgvsp: ENSP00000472912.1:p.Thr449Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1483A>G
  hgvsp: ENSP00000470780.1:p.Thr495Ala
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20932
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5724
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr495Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

19-18376867-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376867
    reference: chr 19
allele count: 14
allele frequency: 1.161035643794264e-4
allele num: 120582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1345A>C
  hgvsp: ENSP00000472912.1:p.Thr449Pro
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1483A>C
  hgvsp: ENSP00000470780.1:p.Thr495Pro
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1483A>C
  hgvsp: ENSP00000376213.2:p.Thr495Pro
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20932
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17664
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 2
hgvs: p.Thr495Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

19-18376868-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376868
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376868
    reference: chr 19
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1344G>C
  hgvsp: ENSP00000472912.1:p.Gln448His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1482G>C
  hgvsp: ENSP00000470780.1:p.Gln494His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1482G>C
  hgvsp: ENSP00000376213.2:p.Gln494His
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln494His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-18376868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376868
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376868
    reference: chr 19
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1344G>A
  hgvsp: ENST00000600359.3:c.1344G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1482G>A
  hgvsp: ENST00000600328.3:c.1482G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1482G>A
  hgvsp: ENST00000392413.4:c.1482G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21316
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln494Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-18376874-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376874
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376874
    reference: chr 19
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1476A>G
  hgvsp: ENST00000392413.4:c.1476A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1338A>G
  hgvsp: ENST00000600359.3:c.1338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1476A>G
  hgvsp: ENST00000600328.3:c.1476A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21066
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser492Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-18376874-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376874
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376874
    reference: chr 19
allele count: 9
allele frequency: 7.464048167990845e-5
allele num: 120578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1338A>C
  hgvsp: ENST00000600359.3:c.1338A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1476A>C
  hgvsp: ENST00000600328.3:c.1476A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1476A>C
  hgvsp: ENST00000392413.4:c.1476A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17570
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21066
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Ser492Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-18376879-GCTTGGTCACCCCAACTGGGCTCCTCTGGGATGAAGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376879
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376843
    reference: chr 19
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsp: ENSP00000376213.2:p.Thr479_Lys490del
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsp: ENSP00000472912.1:p.Thr433_Lys444del
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsp: ENSP00000470780.1:p.Thr479_Lys490del
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17956
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr479_Lys490del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: GCTTGGTCACCCCAACTGGGCTCCTCTGGGATGAAGT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

19-18376886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376886
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376886
    reference: chr 19
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1326G>A
  hgvsp: ENST00000600359.3:c.1326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1464G>A
  hgvsp: ENST00000392413.4:c.1464G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1464G>A
  hgvsp: ENST00000600328.3:c.1464G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21314
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val488Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

19-18376887-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376887
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376887
    reference: chr 19
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1463T>C
  hgvsp: ENSP00000470780.1:p.Val488Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1463T>C
  hgvsp: ENSP00000376213.2:p.Val488Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1325T>C
  hgvsp: ENSP00000472912.1:p.Val442Ala
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21314
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17968
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val488Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/19-18376892-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376892
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376892
    reference: chr 19
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1320T>G
  hgvsp: ENST00000600359.3:c.1320T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1458T>G
  hgvsp: ENST00000600328.3:c.1458T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1458T>G
  hgvsp: ENST00000392413.4:c.1458T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val486Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

19-18376893-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376893
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376893
    reference: chr 19
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1457T>A
  hgvsp: ENSP00000470780.1:p.Val486Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1457T>A
  hgvsp: ENSP00000376213.2:p.Val486Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1319T>A
  hgvsp: ENSP00000472912.1:p.Val440Asp
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5924
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val486Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-18376895-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376895
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376895
    reference: chr 19
allele count: 12
allele frequency: 9.894295938391517e-5
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1455A>G
  hgvsp: ENST00000600328.3:c.1455A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1317A>G
  hgvsp: ENST00000600359.3:c.1317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1455A>G
  hgvsp: ENST00000392413.4:c.1455A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21318
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro485Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

19-18376898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376898
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376898
    reference: chr 19
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1452C>T
  hgvsp: ENST00000392413.4:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1452C>T
  hgvsp: ENST00000600328.3:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1314C>T
  hgvsp: ENST00000600359.3:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21318
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser484Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-18376899-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376899
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376899
    reference: chr 19
allele count: 8
allele frequency: 6.595109726138069e-5
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1313G>C
  hgvsp: ENSP00000472912.1:p.Ser438Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1451G>C
  hgvsp: ENSP00000376213.2:p.Ser484Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1451G>C
  hgvsp: ENSP00000470780.1:p.Ser484Thr
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21318
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser484Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-18376901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376901
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376901
    reference: chr 19
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1311G>A
  hgvsp: ENST00000600359.3:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1449G>A
  hgvsp: ENST00000392413.4:c.1449G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1449G>A
  hgvsp: ENST00000600328.3:c.1449G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21319
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg483Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

19-18376906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376906
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376906
    reference: chr 19
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1444C>T
  hgvsp: ENSP00000376213.2:p.Gln482Ter
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1306C>T
  hgvsp: ENSP00000472912.1:p.Gln436Ter
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1444C>T
  hgvsp: ENSP00000470780.1:p.Gln482Ter
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21319
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln482Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-18376912-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376912
    reference: chr 19
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1300T>C
  hgvsp: ENSP00000472912.1:p.Ser434Pro
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1438T>C
  hgvsp: ENSP00000470780.1:p.Ser480Pro
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1438T>C
  hgvsp: ENSP00000376213.2:p.Ser480Pro
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21319
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser480Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-18376948-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376948
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376948
    reference: chr 19
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1402T>C
  hgvsp: ENST00000600328.3:c.1402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1402T>C
  hgvsp: ENST00000392413.4:c.1402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1264T>C
  hgvsp: ENST00000600359.3:c.1264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21319
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu468Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

19-18376952-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376952
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376951
    reference: chr 19
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1397delA
  hgvsp: ENSP00000470780.1:p.Asn466ThrfsTer23
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1259delA
  hgvsp: ENSP00000472912.1:p.Asn420ThrfsTer23
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1397delA
  hgvsp: ENSP00000376213.2:p.Asn466ThrfsTer23
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21320
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5904
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn466ThrfsTer23
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: GT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

19-18376956-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376956
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376956
    reference: chr 19
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1394A>G
  hgvsp: ENSP00000376213.2:p.Lys465Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1394A>G
  hgvsp: ENSP00000470780.1:p.Lys465Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1256A>G
  hgvsp: ENSP00000472912.1:p.Lys419Arg
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21317
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys465Arg
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: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

19-18376959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376959
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376959
    reference: chr 19
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1391C>T
  hgvsp: ENSP00000470780.1:p.Ala464Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1391C>T
  hgvsp: ENSP00000376213.2:p.Ala464Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1253C>T
  hgvsp: ENSP00000472912.1:p.Ala418Val
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala464Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-18376959-GCTGGGGTGGTGACCGGGTGCAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376959
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376937
    reference: chr 19
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsp: ENSP00000376213.2:p.Met457ProfsTer25
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsp: ENSP00000470780.1:p.Met457ProfsTer25
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsp: ENSP00000472912.1:p.Met411ProfsTer25
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met457ProfsTer25
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GCTGGGGTGGTGACCGGGTGCAT
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

19-18376972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376972
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376972
    reference: chr 19
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1240G>A
  hgvsp: ENSP00000472912.1:p.Val414Ile
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1378G>A
  hgvsp: ENSP00000376213.2:p.Val460Ile
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1378G>A
  hgvsp: ENSP00000470780.1:p.Val460Ile
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val460Ile
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-18376973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376973
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376973
    reference: chr 19
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1377G>A
  hgvsp: ENST00000392413.4:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1239G>A
  hgvsp: ENST00000600359.3:c.1239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1377G>A
  hgvsp: ENST00000600328.3:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21325
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17922
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro459Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

19-18376974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376974
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376974
    reference: chr 19
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1376C>T
  hgvsp: ENSP00000470780.1:p.Pro459Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1376C>T
  hgvsp: ENSP00000376213.2:p.Pro459Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1238C>T
  hgvsp: ENSP00000472912.1:p.Pro413Leu
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5874
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro459Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

19-18376974-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376974
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376974
    reference: chr 19
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1238C>A
  hgvsp: ENSP00000472912.1:p.Pro413Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1376C>A
  hgvsp: ENSP00000376213.2:p.Pro459Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1376C>A
  hgvsp: ENSP00000470780.1:p.Pro459Gln
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro459Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-18376976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376976
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376976
    reference: chr 19
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1374C>T
  hgvsp: ENST00000600328.3:c.1374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1374C>T
  hgvsp: ENST00000392413.4:c.1374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1236C>T
  hgvsp: ENST00000600359.3:c.1236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5873
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His458His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-18376985-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376985
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376985
    reference: chr 19
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1365C>G
  hgvsp: ENST00000600328.3:c.1365C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1365C>G
  hgvsp: ENST00000392413.4:c.1365C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1227C>G
  hgvsp: ENST00000600359.3:c.1227C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21326
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro455Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

19-18376990-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376990
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376990
    reference: chr 19
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1360C>G
  hgvsp: ENSP00000376213.2:p.Pro454Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1360C>G
  hgvsp: ENSP00000470780.1:p.Pro454Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1222C>G
  hgvsp: ENSP00000472912.1:p.Pro408Ala
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21331
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17898
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro454Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

19-18376990-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376990
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376990
    reference: chr 19
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1360C>A
  hgvsp: ENSP00000470780.1:p.Pro454Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1360C>A
  hgvsp: ENSP00000376213.2:p.Pro454Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1222C>A
  hgvsp: ENSP00000472912.1:p.Pro408Thr
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21331
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro454Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/19-18376994-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376994
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376994
    reference: chr 19
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1356G>T
  hgvsp: ENSP00000470780.1:p.Lys452Asn
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1218G>T
  hgvsp: ENSP00000472912.1:p.Lys406Asn
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1356G>T
  hgvsp: ENSP00000376213.2:p.Lys452Asn
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys452Asn
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

19-18376996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18376996
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18376996
    reference: chr 19
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1354A>G
  hgvsp: ENSP00000376213.2:p.Lys452Glu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1354A>G
  hgvsp: ENSP00000470780.1:p.Lys452Glu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1216A>G
  hgvsp: ENSP00000472912.1:p.Lys406Glu
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 5864
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17837
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys452Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

19-18377003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377003
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377003
    reference: chr 19
allele count: 4
allele frequency: 3.297609233305853e-5
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1347G>A
  hgvsp: ENST00000600328.3:c.1347G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1209G>A
  hgvsp: ENST00000600359.3:c.1209G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1347G>A
  hgvsp: ENST00000392413.4:c.1347G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 5828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21331
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17685
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala449Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

19-18377004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377004
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377004
    reference: chr 19
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1208C>T
  hgvsp: ENSP00000472912.1:p.Ala403Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1346C>T
  hgvsp: ENSP00000376213.2:p.Ala449Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1346C>T
  hgvsp: ENSP00000470780.1:p.Ala449Val
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 5829
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
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genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 17679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala449Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

19-18377006-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377006
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377005
    reference: chr 19
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1205delC
  hgvsp: ENSP00000472912.1:p.Pro402LeufsTer41
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1343delC
  hgvsp: ENSP00000376213.2:p.Pro448LeufsTer41
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1343delC
  hgvsp: ENSP00000470780.1:p.Pro448LeufsTer41
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro448LeufsTer41
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: AG
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-18377012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377012
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377012
    reference: chr 19
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1338G>A
  hgvsp: ENST00000392413.4:c.1338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1338G>A
  hgvsp: ENST00000600328.3:c.1338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1200G>A
  hgvsp: ENST00000600359.3:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21328
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro446Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-18377013-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377013
    reference: chr 19
allele count: 5
allele frequency: 4.123099251245176e-5
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1337C>G
  hgvsp: ENSP00000470780.1:p.Pro446Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1199C>G
  hgvsp: ENSP00000472912.1:p.Pro400Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1337C>G
  hgvsp: ENSP00000376213.2:p.Pro446Arg
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21335
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro446Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-18377013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377013
    reference: chr 19
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1199C>T
  hgvsp: ENSP00000472912.1:p.Pro400Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1337C>T
  hgvsp: ENSP00000470780.1:p.Pro446Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1337C>T
  hgvsp: ENSP00000376213.2:p.Pro446Leu
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21335
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro446Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-18377030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377030
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377030
    reference: chr 19
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1182C>T
  hgvsp: ENST00000600359.3:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1320C>T
  hgvsp: ENST00000600328.3:c.1320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1320C>T
  hgvsp: ENST00000392413.4:c.1320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21340
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser440Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-18377033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377033
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377033
    reference: chr 19
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1179G>A
  hgvsp: ENST00000600359.3:c.1179G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1317G>A
  hgvsp: ENST00000600328.3:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1317G>A
  hgvsp: ENST00000392413.4:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21343
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5750
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3388
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17633
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys439Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-18377037-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377037
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377037
    reference: chr 19
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1313T>G
  hgvsp: ENSP00000376213.2:p.Met438Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1175T>G
  hgvsp: ENSP00000472912.1:p.Met392Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1313T>G
  hgvsp: ENSP00000470780.1:p.Met438Arg
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17570
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 108
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21343
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met438Arg
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-18377038-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377038
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377038
    reference: chr 19
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1312A>G
  hgvsp: ENSP00000470780.1:p.Met438Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1312A>G
  hgvsp: ENSP00000376213.2:p.Met438Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1174A>G
  hgvsp: ENSP00000472912.1:p.Met392Val
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5750
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 71
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genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3091
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genotype quality: GenotypeQuality
  all individuals: 68
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 57
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 87
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genotype quality: GenotypeQuality
  all individuals: 21344
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genotype quality: GenotypeQuality
  all individuals: 340
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genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 17562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met438Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

19-18377039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377039
    reference: chr 19
allele count: 20
allele frequency: 1.650846058605035e-4
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1173C>T
  hgvsp: ENST00000600359.3:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1311C>T
  hgvsp: ENST00000392413.4:c.1311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1311C>T
  hgvsp: ENST00000600328.3:c.1311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10711
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5744
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile437Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

19-18377039-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377039
    reference: chr 19
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1311C>A
  hgvsp: ENST00000392413.4:c.1311C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1173C>A
  hgvsp: ENST00000600359.3:c.1173C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1311C>A
  hgvsp: ENST00000600328.3:c.1311C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5744
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 17523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 21348
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genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile437Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-18377050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377050
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377050
    reference: chr 19
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1162C>A
  hgvsp: ENSP00000472912.1:p.Leu388Met
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1300C>A
  hgvsp: ENSP00000376213.2:p.Leu434Met
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1300C>A
  hgvsp: ENSP00000470780.1:p.Leu434Met
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3692
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 483
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
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genotype quality: GenotypeQuality
  all individuals: 3080
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21347
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genotype quality: GenotypeQuality
  all individuals: 5675
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genotype quality: GenotypeQuality
  all individuals: 2222
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu434Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

19-18377054-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377054
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377054
    reference: chr 19
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1296C>A
  hgvsp: ENST00000392413.4:c.1296C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1296C>A
  hgvsp: ENST00000600328.3:c.1296C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1158C>A
  hgvsp: ENST00000600359.3:c.1158C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10012
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3381
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 101
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 5632
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 21349
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 135
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genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 147
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser432Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-18377055-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377055
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377055
    reference: chr 19
allele count: 3
allele frequency: 2.479543763947434e-5
allele num: 120990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1295C>G
  hgvsp: ENSP00000376213.2:p.Ser432Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1295C>G
  hgvsp: ENSP00000470780.1:p.Ser432Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1157C>G
  hgvsp: ENSP00000472912.1:p.Ser386Cys
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21347
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser432Cys
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: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-18377058-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377058
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377058
    reference: chr 19
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1292T>G
  hgvsp: ENSP00000470780.1:p.Val431Gly
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1154T>G
  hgvsp: ENSP00000472912.1:p.Val385Gly
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1292T>G
  hgvsp: ENSP00000376213.2:p.Val431Gly
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21348
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5597
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 611
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genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16850
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val431Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-18377064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377064
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377064
    reference: chr 19
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1286C>T
  hgvsp: ENSP00000376213.2:p.Pro429Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1148C>T
  hgvsp: ENSP00000472912.1:p.Pro383Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1286C>T
  hgvsp: ENSP00000470780.1:p.Pro429Leu
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21350
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2222
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16688
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2746
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 166
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genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro429Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-18377067-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377067
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377067
    reference: chr 19
allele count: 2
allele frequency: 1.655656550605143e-5
allele num: 120798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1283G>T
  hgvsp: ENSP00000470780.1:p.Arg428Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1145G>T
  hgvsp: ENSP00000472912.1:p.Arg382Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1283G>T
  hgvsp: ENSP00000376213.2:p.Arg428Leu
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9669
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 996
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 495
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genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 166
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5525
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genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 153
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genotype quality: GenotypeQuality
  all individuals: 2222
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg428Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

19-18377067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377067
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377067
    reference: chr 19
allele count: 3
allele frequency: 2.483484825907714e-5
allele num: 120798
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1283G>A
  hgvsp: ENSP00000376213.2:p.Arg428Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1283G>A
  hgvsp: ENSP00000470780.1:p.Arg428Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1145G>A
  hgvsp: ENSP00000472912.1:p.Arg382Gln
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21352
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg428Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

19-18377078-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377078
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377078
    reference: chr 19
allele count: 2
allele frequency: 1.658292290599141e-5
allele num: 120606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1272G>C
  hgvsp: ENST00000600328.3:c.1272G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1134G>C
  hgvsp: ENST00000600359.3:c.1134G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1272G>C
  hgvsp: ENST00000392413.4:c.1272G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21371
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr424Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

19-18377078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377078
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377078
    reference: chr 19
allele count: 40
allele frequency: 3.316584581198282e-4
allele num: 120606
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1272G>A
  hgvsp: ENST00000392413.4:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1272G>A
  hgvsp: ENST00000600328.3:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1134G>A
  hgvsp: ENST00000600359.3:c.1134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21371
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr424Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-18377079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377079
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377079
    reference: chr 19
allele count: 3
allele frequency: 2.48616037391852e-5
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1271C>T
  hgvsp: ENSP00000470780.1:p.Thr424Met
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1133C>T
  hgvsp: ENSP00000472912.1:p.Thr378Met
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1271C>T
  hgvsp: ENSP00000376213.2:p.Thr424Met
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21370
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Thr424Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-18377084-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377084
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377084
    reference: chr 19
allele count: 2
allele frequency: 1.657605092162843e-5
allele num: 120656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1128C>G
  hgvsp: ENST00000600359.3:c.1128C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1266C>G
  hgvsp: ENST00000600328.3:c.1266C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1266C>G
  hgvsp: ENST00000392413.4:c.1266C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21372
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr422Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

19-18377085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377085
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377085
    reference: chr 19
allele count: 22
allele frequency: 1.823698128222558e-4
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1127C>T
  hgvsp: ENSP00000472912.1:p.Thr376Ile
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1265C>T
  hgvsp: ENSP00000376213.2:p.Thr422Ile
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1265C>T
  hgvsp: ENSP00000470780.1:p.Thr422Ile
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21379
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr422Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-18377087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377087
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377087
    reference: chr 19
allele count: 2
allele frequency: 1.659200265472042e-5
allele num: 120540
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1263G>A
  hgvsp: ENST00000392413.4:c.1263G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1263G>A
  hgvsp: ENST00000600328.3:c.1263G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1125G>A
  hgvsp: ENST00000600359.3:c.1125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21378
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala421Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-18377088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377088
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377088
    reference: chr 19
allele count: 18
allele frequency: 1.493329793588637e-4
allele num: 120536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1124C>T
  hgvsp: ENSP00000472912.1:p.Ala375Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1262C>T
  hgvsp: ENSP00000470780.1:p.Ala421Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1262C>T
  hgvsp: ENSP00000376213.2:p.Ala421Val
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9218
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21388
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5414
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala421Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

19-18377103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377103
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377103
    reference: chr 19
allele count: 3
allele frequency: 2.492356772564137e-5
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1109G>A
  hgvsp: ENSP00000472912.1:p.Arg370Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1247G>A
  hgvsp: ENSP00000376213.2:p.Arg416Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1247G>A
  hgvsp: ENSP00000470780.1:p.Arg416Gln
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg416Gln
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

19-18377104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377104
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377104
    reference: chr 19
allele count: 9
allele frequency: 7.4762007609111e-5
allele num: 120382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1246C>T
  hgvsp: ENSP00000470780.1:p.Arg416Trp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1246C>T
  hgvsp: ENSP00000376213.2:p.Arg416Trp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1108C>T
  hgvsp: ENSP00000472912.1:p.Arg370Trp
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21393
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg416Trp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

19-18377104-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377104
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377104
    reference: chr 19
allele count: 3
allele frequency: 2.4920669203037e-5
allele num: 120382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1246C>A
  hgvsp: ENST00000600328.3:c.1246C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1108C>A
  hgvsp: ENST00000600359.3:c.1108C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1246C>A
  hgvsp: ENST00000392413.4:c.1246C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21393
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg416Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-18377116-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18377116
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18377116
    reference: chr 19
allele count: 7
allele frequency: 5.819850679259715e-5
allele num: 120278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.1096A>C
  hgvsp: ENSP00000472912.1:p.Thr366Pro
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.1234A>C
  hgvsp: ENSP00000376213.2:p.Thr412Pro
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.1234A>C
  hgvsp: ENSP00000470780.1:p.Thr412Pro
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21395
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr412Pro
num of homozygotes: 0
population: African
reference allele: T

GenotypeQuality
all individuals: 20891
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.985e0

QD
type: SiteQuality
SIO_000300: 1.132e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.33e-1

DP
type: SiteQuality
SIO_000300: 2.416655e6

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

GenotypeQuality
all individuals: 3717
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

QD
type: SiteQuality
SIO_000300: 1.14e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

FS
type: SiteQuality
SIO_000300: 4.016e0

DP
type: SiteQuality
SIO_000300: 2.416754e6

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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FS
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
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South Asian
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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allele num: 10404
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Latino
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South Asian
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Other
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European (Non-Finnish)
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66568
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South Asian
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East Asian
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Latino
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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FS
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MQ
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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African
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East Asian
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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QD
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GenotypeQuality
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variant carriers: 15

East Asian
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Latino
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allele frequency: 8.641548565502938e-5
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele frequency: 1.952655611631819e-4
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Other
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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DP
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QD
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VQSLOD
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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allele num: 11572
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South Asian
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East Asian
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Other
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ReadPosRankSum
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FS
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DP
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.501321162623108e-5
allele num: 66608
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African
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Latino
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Other
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East Asian
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European (Finnish)
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South Asian
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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MQ
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QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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Latino
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Other
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South Asian
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 4.625874861073563e-3
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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East Asian
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South Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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VQSLOD
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DP
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QD
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MQRankSum
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MQ
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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Other
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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QD
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MQ
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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Other
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DP
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 1.501231009427731e-5
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Latino
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African
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Other
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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QD
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MQ
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Other
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 0

Latino
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allele num: 11564
num of homozygotes: 0

European (Finnish)
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allele frequency: 6.506180871828237e-4
allele num: 6148
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South Asian
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.017752369489996e-5
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East Asian
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QD
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501140867058965e-5
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African
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South Asian
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Latino
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Other
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66614
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
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African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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QD
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.50073536032656e-5
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Latino
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num of homozygotes: 0

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

South Asian
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allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.001741009785676e-5
allele num: 66628
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Other
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East Asian
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African
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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African
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East Asian
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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MQRankSum
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 6.912044237083118e-4
allele num: 11574
num of homozygotes: 0

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

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

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

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

African
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European (Non-Finnish)
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East Asian
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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South Asian
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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Other
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South Asian
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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FS
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MQ
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QD
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InbreedingCoeff
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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ClippingRankSum
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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BaseQRankSum
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QD
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VQSLOD
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GenotypeQuality
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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DP
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QD
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GenotypeQuality
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Latino
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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African
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European (Finnish)
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MQ
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VQSLOD
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DP
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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African
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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MQ
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QD
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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GenotypeQuality
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South Asian
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African
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Other
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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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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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QD
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GenotypeQuality
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Other
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European (Finnish)
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Latino
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East Asian
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African
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European (Non-Finnish)
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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QD
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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East Asian
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VQSLOD
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InbreedingCoeff
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QD
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FS
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DP
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MQ
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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DP
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GenotypeQuality
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East Asian
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QD
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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DP
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VQSLOD
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MQRankSum
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FS
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QD
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MQ
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66678
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Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

MQ
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QD
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DP
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499700059988002e-5
allele num: 66680
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10388
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European (Non-Finnish)
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allele frequency: 1.499745043342632e-5
allele num: 66678
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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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East Asian
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allele frequency: 0.0e0
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Latino
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Other
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FS
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

African
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allele frequency: 9.635767970707265e-5
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.129e0

QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

African
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allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
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South Asian
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VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.1e-3

MQ
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele num: 16508
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 906
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

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

Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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FS
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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DP
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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num of homozygotes: 0

East Asian
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African
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.500975126766479e-5
allele num: 66658
num of homozygotes: 0

VQSLOD
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QD
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 906
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Latino
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African
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East Asian
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allele frequency: 1.15606936416185e-4
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.500195025353296e-5
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South Asian
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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Other
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.500780405811022e-5
allele num: 66632
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East Asian
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African
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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Other
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DP
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66626
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European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

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

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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MQ
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FS
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VQSLOD
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.437139e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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East Asian
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Latino
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DP
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FS
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Latino
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.93e-1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 2.885170225043277e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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Other
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeQuality
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variant carriers: 0

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

East Asian
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African
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allele frequency: 9.617234083477592e-5
allele num: 10398
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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Other
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MQ
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.647526807333103e-5
allele num: 11564
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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South Asian
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQ
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.006253006253006e-5
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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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East Asian
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Other
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Latino
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QD
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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African
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Other
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East Asian
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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FS
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BaseQRankSum
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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East Asian
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Other
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FS
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ClippingRankSum
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MQRankSum
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DP
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QD
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009872381411028e-5
allele num: 66448
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 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: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 2.420348e6

QD
type: SiteQuality
SIO_000300: 1.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

FS
type: SiteQuality
SIO_000300: 3.565e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 18
allele frequency: 1.127113337507827e-3
allele num: 15970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 2.420766e6

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 1.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.16e-2

GenotypeQuality
all individuals: 21388
bin: 9.75e1
variant carriers: 3

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

South Asian
type: Population
allele count: 2
allele frequency: 1.261670451678022e-4
allele num: 15852
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 2.419955e6

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 1.113e0

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

GenotypeQuality
all individuals: 5394
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.892028254288597e-4
allele num: 15856
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
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: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.624277456647399e-4
allele num: 8650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

DP
type: SiteQuality
SIO_000300: 2.421252e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.375e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 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: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.468208092485549e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15856
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.421252e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.375e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

GenotypeQuality
all individuals: 2221
bin: 8.75e1
variant carriers: 0

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