12-123098356-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123098356
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123098356
    reference: chr 12
allele count: 1
allele frequency: 8.719003940989781e-6
allele num: 114692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1152+48A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-456+48A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2652+48A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.360+48A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.312+48A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.407+48A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5877+48A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-123099496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099496
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099496
    reference: chr 12
allele count: 2
allele frequency: 2.510670348983178e-5
allele num: 79660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.361-42G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.313-42G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.408-42G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1153-42G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5878-42G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-455-42G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2653-42G>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-123099511-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099511
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099511
    reference: chr 12
allele count: 3
allele frequency: 3.608197825459444e-5
allele num: 83144
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5878-27A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1153-27A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.361-27A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.408-27A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-455-27A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2653-27A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.313-27A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15596
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5080
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14900
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 191
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genotype quality: GenotypeQuality
  all individuals: 529
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17436
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-123099522-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099522
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099523
    reference: chr 12
allele count: 3
allele frequency: 3.519144144144144e-5
allele num: 85248
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1153-9dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.408-9dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5878-9dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.313-9dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.361-9dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-455-9dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2653-9dupT
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18371
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 564
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15652
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-123099531-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099531
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099531
    reference: chr 12
allele count: 1
allele frequency: 1.054429658997448e-5
allele num: 94838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-455-7G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.313-7G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5878-7G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1153-7G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2653-7G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.408-7G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.361-7G>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
hgvs: c.5878-7G>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-123099536-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099536
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099536
    reference: chr 12
allele count: 1
allele frequency: 1.000260067617581e-5
allele num: 99974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-455-2A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2653-2A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.408-2A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.361-2A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5878-2A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.313-2A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1153-2A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
hgvs: c.5878-2A>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-123099550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099550
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099550
    reference: chr 12
allele count: 1
allele frequency: 9.362419249133976e-6
allele num: 106810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1165G>A
  hgvsp: ENSP00000443622.1:p.Val389Met
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5890G>A
  hgvsp: ENSP00000328236.6:p.Val1964Met
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.373G>A
  hgvsp: ENSP00000439119.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2665G>A
  hgvsp: ENSP00000397992.2:p.Val889Met
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.420G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-443G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.325G>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7605
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val1964Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-123099551-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099551
    reference: chr 12
allele count: 1
allele frequency: 9.333930704898446e-6
allele num: 107136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2666T>C
  hgvsp: ENSP00000397992.2:p.Val889Ala
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5891T>C
  hgvsp: ENSP00000328236.6:p.Val1964Ala
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.421T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-442T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1166T>C
  hgvsp: ENSP00000443622.1:p.Val389Ala
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.326T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.374T>C
  hgvsp: ENSP00000439119.1:p.Val125Ala
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35166
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1964Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-123099564-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099564
    reference: chr 12
allele count: 317
allele frequency: 2.873406936059897e-3
allele num: 110322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-429T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.434T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2679T>C
  hgvsp: ENST00000450485.2:c.2679T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1179T>C
  hgvsp: ENST00000537348.1:c.1179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5904T>C
  hgvsp: ENST00000333479.7:c.5904T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.339T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.387T>C
  hgvsp: ENST00000546125.1:c.387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 36795
  bin: 2.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys1968Cys
num of homozygotes: 4
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-123099570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099570
    reference: chr 12
allele count: 2
allele frequency: 1.79972644158088e-5
allele num: 111128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-423A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.440A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.345A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5910A>G
  hgvsp: ENST00000333479.7:c.5910A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1185A>G
  hgvsp: ENST00000537348.1:c.1185A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2685A>G
  hgvsp: ENST00000450485.2:c.2685A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.393A>G
  hgvsp: ENST00000546125.1:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu1970Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-123099573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099573
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099573
    reference: chr 12
allele count: 316
allele frequency: 2.842084435090749e-3
allele num: 111186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2688C>T
  hgvsp: ENST00000450485.2:c.2688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.396C>T
  hgvsp: ENST00000546125.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.443C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.348C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-420C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1188C>T
  hgvsp: ENST00000537348.1:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5913C>T
  hgvsp: ENST00000333479.7:c.5913C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37069
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 3.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9515
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr1971Tyr
num of homozygotes: 4
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-123099581-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099581
    reference: chr 12
allele count: 17
allele frequency: 1.520327675329553e-4
allele num: 111818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.356A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.404A>G
  hgvsp: ENSP00000439119.1:p.Tyr135Cys
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1196A>G
  hgvsp: ENSP00000443622.1:p.Tyr399Cys
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-412A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5921A>G
  hgvsp: ENSP00000328236.6:p.Tyr1974Cys
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.451A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2696A>G
  hgvsp: ENSP00000397992.2:p.Tyr899Cys
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9996
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37248
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr1974Cys
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-123099587-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099587
    reference: chr 12
allele count: 14
allele frequency: 1.253200136061729e-4
allele num: 111714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.410T>C
  hgvsp: ENSP00000439119.1:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.362T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.457T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1202T>C
  hgvsp: ENSP00000443622.1:p.Leu401Pro
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2702T>C
  hgvsp: ENSP00000397992.2:p.Leu901Pro
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5927T>C
  hgvsp: ENSP00000328236.6:p.Leu1976Pro
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-406T>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36908
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1976Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

12-123099607-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099607
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099607
    reference: chr 12
allele count: 1
allele frequency: 9.347017366758268e-6
allele num: 106986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2722T>C
  hgvsp: ENST00000450485.2:c.2722T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-386T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.430T>C
  hgvsp: ENST00000546125.1:c.430T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.382T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1222T>C
  hgvsp: ENST00000537348.1:c.1222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5947T>C
  hgvsp: ENST00000333479.7:c.5947T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.477T>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30675
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10785
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1983Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-123099610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099610
    reference: chr 12
allele count: 1
allele frequency: 9.377696087625192e-6
allele num: 106636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2725C>T
  hgvsp: ENSP00000397992.2:p.Gln909Ter
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.480C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5950C>T
  hgvsp: ENSP00000328236.6:p.Gln1984Ter
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-383C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.433C>T
  hgvsp: ENSP00000439119.1:p.Gln145Ter
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1225C>T
  hgvsp: ENSP00000443622.1:p.Gln409Ter
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.385C>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln1984Ter
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

12-123099616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099616
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099616
    reference: chr 12
allele count: 5
allele frequency: 4.793496184377037e-5
allele num: 104308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.486C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5956C>T
  hgvsp: ENSP00000328236.6:p.Leu1986Phe
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1231C>T
  hgvsp: ENSP00000443622.1:p.Leu411Phe
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-377C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.391C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.439C>T
  hgvsp: ENSP00000439119.1:p.Leu147Phe
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2731C>T
  hgvsp: ENSP00000397992.2:p.Leu911Phe
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27633
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1986Phe
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

12-123099620-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099620
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099620
    reference: chr 12
allele count: 2
allele frequency: 1.937158575801015e-5
allele num: 103244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.490T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5960T>C
  hgvsp: ENSP00000328236.6:p.Leu1987Pro
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.443T>C
  hgvsp: ENSP00000439119.1:p.Leu148Pro
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.395T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1235T>C
  hgvsp: ENSP00000443622.1:p.Leu412Pro
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-373T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2735T>C
  hgvsp: ENSP00000397992.2:p.Leu912Pro
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15134
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1987Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-123099629-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099629
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099629
    reference: chr 12
allele count: 4
allele frequency: 4.024468770122344e-5
allele num: 99392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.404A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.452A>G
  hgvsp: ENSP00000439119.1:p.Asn151Ser
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2744A>G
  hgvsp: ENSP00000397992.2:p.Asn915Ser
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-364A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5969A>G
  hgvsp: ENSP00000328236.6:p.Asn1990Ser
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1244A>G
  hgvsp: ENSP00000443622.1:p.Asn415Ser
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.499A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11834
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn1990Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-123099633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099633
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099633
    reference: chr 12
allele count: 2
allele frequency: 2.057359173764556e-5
allele num: 97212
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5973G>A
  hgvsp: ENSP00000328236.6:p.Met1991Ile
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2748G>A
  hgvsp: ENSP00000397992.2:p.Met916Ile
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1248G>A
  hgvsp: ENSP00000443622.1:p.Met416Ile
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.503G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.408G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.456G>A
  hgvsp: ENSP00000439119.1:p.Met152Ile
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-360G>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met1991Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-123099636-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099636
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099636
    reference: chr 12
allele count: 1
allele frequency: 1.042752867570386e-5
allele num: 95900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.408+3A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.503+3A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5973+3A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2748+3A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.456+3A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-360+3A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1248+3A>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17304
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
hgvs: c.5973+3A>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-123099644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099644
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099644
    reference: chr 12
allele count: 3
allele frequency: 3.396354579418091e-5
allele num: 88330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.408+11C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-360+11C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.456+11C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5973+11C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1248+11C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.503+11C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2748+11C>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14027
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8902
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

12-123099646-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099646
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099646
    reference: chr 12
allele count: 1
allele frequency: 1.136027991729716e-5
allele num: 88026
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5973+13C>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-360+13C>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.503+13C>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1248+13C>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.456+13C>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2748+13C>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.408+13C>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-123099651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099651
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099651
    reference: chr 12
allele count: 1
allele frequency: 1.196258104648659e-5
allele num: 83594
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5973+18C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.408+18C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.456+18C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1248+18C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-360+18C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.503+18C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2748+18C>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29896
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-123099655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099655
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099655
    reference: chr 12
allele count: 4
allele frequency: 5.02209722780233e-5
allele num: 79648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1248+22C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.503+22C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-360+22C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.456+22C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.408+22C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2748+22C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5973+22C>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3647
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 29527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

12-123099656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099656
    reference: chr 12
allele count: 1
allele frequency: 1.277922609006799e-5
allele num: 78252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.456+23G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-360+23G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.408+23G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2748+23G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.503+23G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1248+23G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5973+23G>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-123099666-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123099666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123099666
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 69990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.503+33A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1248+33A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-360+33A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5973+33A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.456+33A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.408+33A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2748+33A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18240
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7749
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

12-123100025-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123100025
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123100025
    reference: chr 12
allele count: 1
allele frequency: 5.252100840336135e-5
allele num: 19040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.417T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.512T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2757T>C
  hgvsp: ENST00000450485.2:c.2757T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.5982T>C
  hgvsp: ENST00000333479.7:c.5982T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.465T>C
  hgvsp: ENST00000546125.1:c.465T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1257T>C
  hgvsp: ENST00000537348.1:c.1257T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-351T>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr1994Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-123100056-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123100056
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123100056
    reference: chr 12
allele count: 2
allele frequency: 1.021972406745018e-4
allele num: 19570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.543A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2788A>G
  hgvsp: ENSP00000397992.2:p.Ile930Val
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6013A>G
  hgvsp: ENSP00000328236.6:p.Ile2005Val
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.448A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-320A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.496A>G
  hgvsp: ENSP00000439119.1:p.Ile166Val
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1288A>G
  hgvsp: ENSP00000443622.1:p.Ile430Val
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile2005Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-123100075-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123100075
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123100075
    reference: chr 12
allele count: 119
allele frequency: 6.704980842911878e-3
allele num: 17748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1305+2T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-303+2T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.513+2T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2805+2T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.465+2T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.560+2T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6030+2T>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 7
hgvs: c.6030+2T>G
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

12-123100076-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123100076
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123100076
    reference: chr 12
allele count: 2
allele frequency: 1.0498687664042e-4
allele num: 19050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.513+3A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.560+3A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-303+3A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.465+3A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1305+3A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6030+3A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2805+3A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
hgvs: c.6030+3A>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-123100080-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123100080
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123100081
    reference: chr 12
allele count: 1
allele frequency: 5.259282633848743e-5
allele num: 19014
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1305+8dupG
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.465+8dupG
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6030+8dupG
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-303+8dupG
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2805+8dupG
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.513+8dupG
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.560+8dupG
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
hgvs: c.6030+8dupG
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-123100081-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123100081
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123100082
    reference: chr 12
allele count: 1
allele frequency: 5.257070760172432e-5
allele num: 19022
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1305+14dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.465+14dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.513+14dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6030+14dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.560+14dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-303+14dupT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2805+14dupT
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-123100081-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123100081
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123100083
    reference: chr 12
allele count: 1
allele frequency: 5.257070760172432e-5
allele num: 19022
alternate allele: GTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.465+13_465+14dupTT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1305+13_1305+14dupTT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.513+13_513+14dupTT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.560+13_560+14dupTT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-303+13_-303+14dupTT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6030+13_6030+14dupTT
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2805+13_2805+14dupTT
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-123100088-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123100088
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123100088
    reference: chr 12
allele count: 4
allele frequency: 2.130833155763904e-4
allele num: 18772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2805+15A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1305+15A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.560+15A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.465+15A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-303+15A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.513+15A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6030+15A>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-123100094-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123100094
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123100094
    reference: chr 12
allele count: 2
allele frequency: 1.060670343657191e-4
allele num: 18856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-303+21A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2805+21A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1305+21A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6030+21A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.465+21A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.513+21A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.560+21A>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-123101948-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123101948
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123101948
    reference: chr 12
allele count: 3
allele frequency: 2.865329512893983e-4
allele num: 10470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-942G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-942G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1306-6G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-942G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-942G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-302-6G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-942G>T
  variant of: http://identifiers.org/hgnc/17255
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1306-6G>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-123101970-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123101970
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123101970
    reference: chr 12
allele count: 1
allele frequency: 9.54380606986066e-5
allele num: 10478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-920A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-920A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-286A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.1322A>G
  hgvsp: ENSP00000443622.1:p.Tyr441Cys
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-920A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-920A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-920A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr441Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-123102006-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102006
    reference: chr 12
allele count: 2
allele frequency: 1.954270080125073e-4
allele num: 10234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-884A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-884A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-250A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-884A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*26A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-884A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-884A>T
  variant of: http://identifiers.org/hgnc/17255
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

12-123102845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102845
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102845
    reference: chr 12
allele count: 1
allele frequency: 9.93917226573371e-6
allele num: 100612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-45A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-45A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-45A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-45A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-45A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-45A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-45A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

12-123102846-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102846
    reference: chr 12
allele count: 1
allele frequency: 9.927529038022437e-6
allele num: 100730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-44A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-44A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-44A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-44A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-44A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-44A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-44A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-123102849-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102849
    reference: chr 12
allele count: 4
allele frequency: 3.963849690819724e-5
allele num: 100912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-41T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-41T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-41T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-41T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-41T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-41T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-41T>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10051
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18283
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6652
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

12-123102849-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102849
    reference: chr 12
allele count: 1
allele frequency: 9.909624227049311e-6
allele num: 100912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-41T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-41T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-41T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-41T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-41T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-41T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-41T>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10178
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

12-123102850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102850
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102850
    reference: chr 12
allele count: 1
allele frequency: 9.917879953981038e-6
allele num: 100828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-40C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-40C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-40C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-40C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-40C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-40C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-40C>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7685
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

12-123102861-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102861
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102861
    reference: chr 12
allele count: 5
allele frequency: 4.872439533025395e-5
allele num: 102618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-29A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-29A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-29A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-29A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-29A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-29A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-29A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5965
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6460
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 9115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19901
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-123102862-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102862
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102862
    reference: chr 12
allele count: 4
allele frequency: 3.888629646912428e-5
allele num: 102864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-28T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-28T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-28T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-28T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-28T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-28T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-28T>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6458
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-123102871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102871
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102871
    reference: chr 12
allele count: 3
allele frequency: 2.843386283504568e-5
allele num: 105508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-19C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-19C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-19C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-19C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-19C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-19C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-19C>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26763
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6467
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

12-123102872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102872
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102872
    reference: chr 12
allele count: 2
allele frequency: 1.88625860605489e-5
allele num: 106030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-18G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-18G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-18G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-18G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-18G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-18G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-18G>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27370
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6467
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-123102886-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102886
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102886
    reference: chr 12
allele count: 2
allele frequency: 1.811331691059267e-5
allele num: 110416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-4A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-4A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-4A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-4A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-4A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-4A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-4A>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: c.6031-4A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-123102886-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102886
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102886
    reference: chr 12
allele count: 1
allele frequency: 9.056658455296334e-6
allele num: 110416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-4A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-4A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-4A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-4A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-4A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-4A>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-4A>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
hgvs: c.6031-4A>T
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-123102887-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102887
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102887
    reference: chr 12
allele count: 1
allele frequency: 9.041754823776199e-6
allele num: 110598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-207-3C>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*69-3C>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.514-3C>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2806-3C>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6031-3C>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.561-3C>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.466-3C>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.75e1
  variant carriers: 0
hgvs: c.6031-3C>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-123102903-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102903
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102903
    reference: chr 12
allele count: 1
allele frequency: 8.747681864305959e-6
allele num: 114316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.574G>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2819G>C
  hgvsp: ENSP00000397992.2:p.Ser940Thr
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.527G>C
  hgvsp: ENSP00000439119.1:p.Ser176Thr
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6044G>C
  hgvsp: ENSP00000328236.6:p.Ser2015Thr
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*82G>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.479G>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-194G>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser2015Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-123102906-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102906
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102906
    reference: chr 12
allele count: 1
allele frequency: 8.696559641006019e-6
allele num: 114988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.482A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-191A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2822A>C
  hgvsp: ENSP00000397992.2:p.Lys941Thr
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.530A>C
  hgvsp: ENSP00000439119.1:p.Lys177Thr
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6047A>C
  hgvsp: ENSP00000328236.6:p.Lys2016Thr
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*85A>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.577A>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6476
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys2016Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

12-123102908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102908
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102908
    reference: chr 12
allele count: 6
allele frequency: 5.211047420531527e-5
allele num: 115140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.532G>A
  hgvsp: ENSP00000439119.1:p.Ala178Thr
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.579G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2824G>A
  hgvsp: ENSP00000397992.2:p.Ala942Thr
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6049G>A
  hgvsp: ENSP00000328236.6:p.Ala2017Thr
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-189G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*87G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.484G>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32493
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8491
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala2017Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

12-123102909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102909
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102909
    reference: chr 12
allele count: 2
allele frequency: 1.735538624412086e-5
allele num: 115238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.580C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2825C>T
  hgvsp: ENSP00000397992.2:p.Ala942Val
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6050C>T
  hgvsp: ENSP00000328236.6:p.Ala2017Val
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.533C>T
  hgvsp: ENSP00000439119.1:p.Ala178Val
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*88C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.485C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-188C>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6479
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala2017Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

12-123102910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102910
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102910
    reference: chr 12
allele count: 1
allele frequency: 8.660558086363084e-6
allele num: 115466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-187G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6051G>A
  hgvsp: ENST00000333479.7:c.6051G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.534G>A
  hgvsp: ENST00000546125.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.486G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*89G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.581G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2826G>A
  hgvsp: ENST00000450485.2:c.2826G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala2017Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-123102917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102917
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102917
    reference: chr 12
allele count: 1
allele frequency: 8.593575442998814e-6
allele num: 116366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6058C>T
  hgvsp: ENSP00000328236.6:p.Arg2020Cys
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2833C>T
  hgvsp: ENSP00000397992.2:p.Arg945Cys
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.588C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.541C>T
  hgvsp: ENSP00000439119.1:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*96C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-180C>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.493C>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg2020Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-123102918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102918
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102918
    reference: chr 12
allele count: 6
allele frequency: 5.149153822388521e-5
allele num: 116524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.494G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.589G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.542G>A
  hgvsp: ENSP00000439119.1:p.Arg181His
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6059G>A
  hgvsp: ENSP00000328236.6:p.Arg2020His
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2834G>A
  hgvsp: ENSP00000397992.2:p.Arg945His
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-179G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*97G>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32403
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg2020His
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

12-123102918-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102918
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102918
    reference: chr 12
allele count: 1
allele frequency: 8.581923037314201e-6
allele num: 116524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.542G>T
  hgvsp: ENSP00000439119.1:p.Arg181Leu
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.589G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-179G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*97G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6059G>T
  hgvsp: ENSP00000328236.6:p.Arg2020Leu
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2834G>T
  hgvsp: ENSP00000397992.2:p.Arg945Leu
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.494G>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg2020Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-123102921-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102921
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102921
    reference: chr 12
allele count: 11372
allele frequency: 9.674839631791189e-2
allele num: 117542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.497T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-176T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6062T>G
  hgvsp: ENSP00000328236.6:p.Val2021Gly
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2837T>G
  hgvsp: ENSP00000397992.2:p.Val946Gly
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*100T>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.545T>G
  hgvsp: ENSP00000439119.1:p.Val182Gly
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.592T>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 9.75e1
  variant carriers: 1549
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 9854
  bin: 2.75e1
  variant carriers: 1841
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.75e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 28146
  bin: 2.25e1
  variant carriers: 1311
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 1.75e1
  variant carriers: 612
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 3.75e1
  variant carriers: 1205
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 3.25e1
  variant carriers: 1640
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.25e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 4.25e1
  variant carriers: 754
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 30523
  bin: 6.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 6.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 15213
  bin: 9.75e1
  variant carriers: 10303
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 25
hgvs: p.Val2021Gly
num of homozygotes: 637
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-123102923-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102923
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102923
    reference: chr 12
allele count: 3
allele frequency: 2.547165005349046e-5
allele num: 117778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2839A>G
  hgvsp: ENSP00000397992.2:p.Ile947Val
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.499A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.594A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.547A>G
  hgvsp: ENSP00000439119.1:p.Ile183Val
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6064A>G
  hgvsp: ENSP00000328236.6:p.Ile2022Val
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*102A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-174A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile2022Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

12-123102934-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102934
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102934
    reference: chr 12
allele count: 2
allele frequency: 1.690359877617945e-5
allele num: 118318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.605A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2850A>G
  hgvsp: ENST00000450485.2:c.2850A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6075A>G
  hgvsp: ENST00000333479.7:c.6075A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.558A>G
  hgvsp: ENST00000546125.1:c.558A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*113A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-163A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.510A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28265
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro2025Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-123102935-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102935
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102935
    reference: chr 12
allele count: 1
allele frequency: 8.450513791238508e-6
allele num: 118336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.559C>A
  hgvsp: ENSP00000439119.1:p.Leu187Met
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2851C>A
  hgvsp: ENSP00000397992.2:p.Leu951Met
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-162C>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6076C>A
  hgvsp: ENSP00000328236.6:p.Leu2026Met
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*114C>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.511C>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.606C>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu2026Met
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-123102937-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102937
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102937
    reference: chr 12
allele count: 1
allele frequency: 8.446231291597689e-6
allele num: 118396
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6078G>C
  hgvsp: ENST00000333479.7:c.6078G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2853G>C
  hgvsp: ENST00000450485.2:c.2853G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.561G>C
  hgvsp: ENST00000546125.1:c.561G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*116G>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-160G>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.513G>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000539013
  gene symbol: KNTC1
  hgvsc: ENST00000539013.1:n.608G>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu2026Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-123102952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102952
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102952
    reference: chr 12
allele count: 5
allele frequency: 4.209250248345764e-5
allele num: 118786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-153+8G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6085+8G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.520+8G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*123+8G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2860+8G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.568+8G>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27542
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
hgvs: c.6085+8G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

12-123102964-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102964
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102964
    reference: chr 12
allele count: 1
allele frequency: 8.388980235562565e-6
allele num: 119204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.520+20A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-153+20A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6085+20A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.568+20A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*123+20A>G
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2860+20A>G
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

12-123102966-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102966
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102966
    reference: chr 12
allele count: 3
allele frequency: 2.516018652084941e-5
allele num: 119236
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6085+22T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2860+22T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*123+22T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.520+22T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-153+22T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.568+22T>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-123102968-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102968
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102968
    reference: chr 12
allele count: 316
allele frequency: 2.649850736255996e-3
allele num: 119252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-153+24G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6085+24G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.568+24G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2860+24G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*123+24G>T
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.520+24G>T
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12242
  bin: 2.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 26726
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 3.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7211
  bin: 9.75e1
  variant carriers: 311
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 4
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-123102974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102974
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102974
    reference: chr 12
allele count: 1
allele frequency: 8.379841453399702e-6
allele num: 119334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*123+30G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-153+30G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2860+30G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6085+30G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.568+30G>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.520+30G>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6941
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

12-123102984-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102984
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102984
    reference: chr 12
allele count: 1
allele frequency: 8.36946150884652e-6
allele num: 119482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*123+40G>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2860+40G>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-153+40G>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.568+40G>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6085+40G>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.520+40G>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-123102985-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102985
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102985
    reference: chr 12
allele count: 1
allele frequency: 8.367640660039494e-6
allele num: 119508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2860+41T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6085+41T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*123+41T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-153+41T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.520+41T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.568+41T>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

12-123102990-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102990
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102990
    reference: chr 12
allele count: 1
allele frequency: 8.362462577979963e-6
allele num: 119582
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6086-39T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2861-39T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.569-39T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-152-39T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*124-39T>C
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.521-39T>C
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-123102992-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123102992
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 123102992
    reference: chr 12
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl transcript: ENST00000541427
  gene symbol: KNTC1
  hgvsc: ENST00000541427.1:n.521-37T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000443622
  ensembl transcript: ENST00000537348
  gene symbol: KNTC1
  hgvsc: ENST00000537348.1:c.*124-37T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000408760
  ensembl transcript: ENST00000436959
  gene symbol: KNTC1
  hgvsc: ENST00000436959.3:c.-152-37T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000439119
  ensembl transcript: ENST00000546125
  gene symbol: KNTC1
  hgvsc: ENST00000546125.1:c.569-37T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000397992
  ensembl transcript: ENST00000450485
  gene symbol: KNTC1
  hgvsc: ENST00000450485.2:c.2861-37T>A
  variant of: http://identifiers.org/hgnc/17255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184445
  ensembl protein: ENSP00000328236
  ensembl transcript: ENST00000333479
  gene symbol: KNTC1
  hgvsc: ENST00000333479.7:c.6086-37T>A
  variant of: http://identifiers.org/hgnc/17255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 23862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3064
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3210
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542543345468008e-5
allele num: 64828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13184
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.057e1

FS
type: SiteQuality
SIO_000300: 3.117e0

VQSLOD
type: SiteQuality
SIO_000300: -1.229e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

QD
type: SiteQuality
SIO_000300: 1.47e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 1.460523e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

GenotypeQuality
all individuals: 549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14985
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7983
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.904443799012489e-4
allele num: 6886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 8.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

DP
type: SiteQuality
SIO_000300: 1.066772e6

GenotypeQuality
all individuals: 529
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3637
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.630789302022179e-4
allele num: 6132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.342539517109606e-5
allele num: 46056
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.238e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

DP
type: SiteQuality
SIO_000300: 1.15609e6

GenotypeQuality
all individuals: 1382
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 578
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2738
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7296
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.545595054095827e-4
allele num: 6470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.223686433519176e-5
allele num: 47352
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.759e0

VQSLOD
type: SiteQuality
SIO_000300: -2.522e0

QD
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 1.3882e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

DP
type: SiteQuality
SIO_000300: 1.252058e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3638
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28406
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 659
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.894872475082427e-5
allele num: 52774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.62e-1

FS
type: SiteQuality
SIO_000300: 9.039999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.07e0

QD
type: SiteQuality
SIO_000300: 8.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.349028e6

GenotypeQuality
all individuals: 568
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33755
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10906
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.689760054072322e-4
allele num: 5918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55676
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.7e0

VQSLOD
type: SiteQuality
SIO_000300: -1.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.296e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

DP
type: SiteQuality
SIO_000300: 1.413736e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

GenotypeQuality
all individuals: 594
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59568
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.285677552069941e-4
allele num: 7778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 1.397e0

DP
type: SiteQuality
SIO_000300: 1.486519e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.186e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.281e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

GenotypeQuality
all individuals: 2799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.281394156842645e-4
allele num: 7804
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59738
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.854e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.063e1

DP
type: SiteQuality
SIO_000300: 1.48976e6

VQSLOD
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

GenotypeQuality
all individuals: 41629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 9.75e1
variant carriers: 310

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 401
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 295
allele frequency: 3.265441664821785e-2
allele num: 9034
num of homozygotes: 4

Other
type: Population
allele count: 1
allele frequency: 1.234567901234568e-3
allele num: 810
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.360015543034778e-3
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.139610601028847e-5
allele num: 61428
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.384657989476599e-4
allele num: 14444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 1.723e1

DP
type: SiteQuality
SIO_000300: 1.534167e6

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 2
allele frequency: 2.479543763947434e-4
allele num: 8066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.544031e6

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.449e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.034e0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 919
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 41856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2952
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 233
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 9.75e1
variant carriers: 310

GenotypeQuality
all individuals: 440
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 2

African
type: Population
allele count: 295
allele frequency: 3.246753246753246e-2
allele num: 9086
num of homozygotes: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.345895020188425e-3
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.074413797558297e-5
allele num: 61924
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.873797085510036e-5
allele num: 14548
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.21654501216545e-3
allele num: 822
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.548249e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.412e0

QD
type: SiteQuality
SIO_000300: 1.637e1

GenotypeQuality
all individuals: 482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5459
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3025
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.425083526085839e-5
allele num: 62256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 8.884636413340623e-4
allele num: 14632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

DP
type: SiteQuality
SIO_000300: 1.552397e6

QD
type: SiteQuality
SIO_000300: 1.142e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

GenotypeQuality
all individuals: 449
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3015
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14614
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.539476577963493e-3
allele num: 9094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.552913e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
type: SiteQuality
SIO_000300: 8.22e-1

FS
type: SiteQuality
SIO_000300: 1.777e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 35587
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.679486748849552e-5
allele num: 59542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.161e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 1.478269e6

MQ
type: SiteQuality
SIO_000300: 5.773e1

MQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.279e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.684238892444504e-5
allele num: 59374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.474362e6

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 2.895e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.673e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.116e0

VQSLOD
type: SiteQuality
SIO_000300: -7.773e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

GenotypeQuality
all individuals: 13853
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 894
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GenotypeQuality
all individuals: 359
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.723068440278448e-5
allele num: 58036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.886419396738346e-4
allele num: 13858
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

DP
type: SiteQuality
SIO_000300: 1.432109e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 6.9e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.277e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.179e0

GenotypeQuality
all individuals: 2480
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variant carriers: 0

GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 357
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 622
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GenotypeQuality
all individuals: 3645
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 1
allele frequency: 1.16767865483419e-4
allele num: 8564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.741007695254013e-5
allele num: 57438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13770
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.412848e6

FS
type: SiteQuality
SIO_000300: 7.074e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.563e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.37e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1503
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.453786523553965e-5
allele num: 13416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.811922449719152e-5
allele num: 55190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.418379685610641e-4
allele num: 8270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

FS
type: SiteQuality
SIO_000300: 8.993e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 1.35028e6

QD
type: SiteQuality
SIO_000300: 1.542e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.708786114304788e-5
allele num: 53926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7124
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.314573e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.210000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2167
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.880618347312596e-5
allele num: 53174
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7024
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13102
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ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 5.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

DP
type: SiteQuality
SIO_000300: 1.285952e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.114718347529112e-5
allele num: 48606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
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Latino
type: Population
allele count: 1
allele frequency: 1.364256480218281e-4
allele num: 7330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12528
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

DP
type: SiteQuality
SIO_000300: 1.154109e6

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.064068692206077e-5
allele num: 48448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -2.279e0

MQ
type: SiteQuality
SIO_000300: 5.872e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 4.503e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

QD
type: SiteQuality
SIO_000300: 2.492e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

DP
type: SiteQuality
SIO_000300: 1.152669e6

GenotypeQuality
all individuals: 3958
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
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GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.178364483945454e-5
allele num: 45906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

FS
type: SiteQuality
SIO_000300: 1.944e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e-1

QD
type: SiteQuality
SIO_000300: 1.593e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.096291e6

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 4150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.560600887674974e-4
allele num: 11716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.443418013856813e-4
allele num: 6928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.357e1

DP
type: SiteQuality
SIO_000300: 1.058032e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 264
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4627
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 318
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5568
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.337759491303535e-5
allele num: 42776
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.14e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.134e0

DP
type: SiteQuality
SIO_000300: 1.046889e6

QD
type: SiteQuality
SIO_000300: 1.446e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.296e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

GenotypeQuality
all individuals: 315
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3642
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
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variant carriers: 0

GenotypeQuality
all individuals: 4201
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GenotypeQuality
all individuals: 188
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variant carriers: 0

GenotypeQuality
all individuals: 421
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variant carriers: 0

GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37970
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

DP
type: SiteQuality
SIO_000300: 9.78614e5

QD
type: SiteQuality
SIO_000300: 1.132e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

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

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
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GenotypeQuality
all individuals: 5966
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 7.5e0
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GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 333
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.264222503160556e-4
allele num: 7910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.778e0

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

DP
type: SiteQuality
SIO_000300: 3.03753e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
all individuals: 460
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
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GenotypeQuality
all individuals: 6139
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GenotypeQuality
all individuals: 1024
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 1253
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 102
bin: 8.75e1
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GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.383790226460072e-4
allele num: 8390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 6.466e0

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

DP
type: SiteQuality
SIO_000300: 3.0839e5

QD
type: SiteQuality
SIO_000300: 1.349e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1094
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 107
bin: 5.25e1
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GenotypeQuality
all individuals: 353
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variant carriers: 3

GenotypeQuality
all individuals: 88
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GenotypeQuality
all individuals: 202
bin: 8.25e1
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GenotypeQuality
all individuals: 4984
bin: 6.25e1
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GenotypeQuality
all individuals: 890
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variant carriers: 5

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 274
bin: 7.25e1
variant carriers: 3

Latino
type: Population
allele count: 1
allele frequency: 2.564102564102564e-3
allele num: 390
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.543881963876876e-4
allele num: 7862
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 1.016949152542373e-2
allele num: 590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 82
allele frequency: 1.15917444161719e-2
allele num: 7074
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 1.54320987654321e-2
allele num: 1620
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 1.685393258426966e-2
allele num: 178
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.369e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.39e-2

DP
type: SiteQuality
SIO_000300: 3.17882e5

FS
type: SiteQuality
SIO_000300: 4.20993e2

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -8.021e2

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.5e0
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GenotypeQuality
all individuals: 74
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variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 5.25e1
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GenotypeQuality
all individuals: 313
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GenotypeQuality
all individuals: 1226
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GenotypeQuality
all individuals: 330
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GenotypeQuality
all individuals: 137
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GenotypeQuality
all individuals: 144
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.263157894736842e-4
allele num: 1900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.247816321437484e-4
allele num: 8014
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.02127e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.361e2

FS
type: SiteQuality
SIO_000300: 3.07991e2

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.572e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.384e0

QD
type: SiteQuality
SIO_000300: 1.82e0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 993
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GenotypeQuality
all individuals: 140
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GenotypeQuality
all individuals: 331
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GenotypeQuality
all individuals: 5433
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GenotypeQuality
all individuals: 308
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GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.25093820365274e-4
allele num: 7994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.00526e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.02e1

QD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.506e0

MQRankSum
type: SiteQuality
SIO_000300: 2.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.36e0

VQSLOD
type: SiteQuality
SIO_000300: -2.324e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7998
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1892
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.265502404454569e-4
allele num: 7902
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 6.032e1

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

QD
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SIO_000300: 1.143e1

ReadPosRankSum
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SIO_000300: -1.226e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

DP
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SIO_000300: 3.00481e5

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

African
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allele count: 1
allele frequency: 5.285412262156448e-4
allele num: 1892
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 404
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.226e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

FS
type: SiteQuality
SIO_000300: 9.5e-1

BaseQRankSum
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SIO_000300: 9.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

DP
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SIO_000300: 3.00481e5

MQ
type: SiteQuality
SIO_000300: 6.032e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 3.838280450358239e-4
allele num: 7816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
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allele count: 1
allele frequency: 5.422993492407809e-4
allele num: 1844
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 402
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.271e0

FS
type: SiteQuality
SIO_000300: 3.49992e2

DP
type: SiteQuality
SIO_000300: 2.98707e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.599e2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

BaseQRankSum
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SIO_000300: -3.234e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

QD
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 716
bin: 2.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 5.382131324004305e-4
allele num: 1858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 2.475247524752475e-3
allele num: 404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

FS
type: SiteQuality
SIO_000300: 6.496e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 1.117e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 2.93777e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2632
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.103967168262654e-4
allele num: 7310
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.35023e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

MQ
type: SiteQuality
SIO_000300: 5.775e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

FS
type: SiteQuality
SIO_000300: 4.274e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 9.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.80517503805175e-4
allele num: 2628
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7324
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.027e0

MQRankSum
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SIO_000300: -1.105e0

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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BaseQRankSum
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SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2560
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 186
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Latino
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South Asian
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allele frequency: 2.795638803466592e-4
allele num: 7154
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Other
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allele frequency: 0.0e0
allele num: 114
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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VQSLOD
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.006726457399103e-5
allele num: 14272
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 55328
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East Asian
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allele frequency: 0.0e0
allele num: 7186
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

FS
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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African
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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
allele num: 55380
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Latino
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allele frequency: 1.146263182026593e-4
allele num: 8724
num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 7.208246233691343e-5
allele num: 55492
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 4.531e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.363116e6

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.802061558422836e-5
allele num: 55492
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 4.531e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55468
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7196
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14324
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.561e0

DP
type: SiteQuality
SIO_000300: 1.369691e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.616e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.858337467224152e-5
allele num: 56444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14482
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.326e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.451501e6

FS
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.849e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.76740897843761e-5
allele num: 56580
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.454629203132197e-4
allele num: 8684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 1.176e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

DP
type: SiteQuality
SIO_000300: 1.459586e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.719808757266192e-5
allele num: 58146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8834
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.314751511964239e-4
allele num: 7606
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.794401413235494e-5
allele num: 14718
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.535068e6

FS
type: SiteQuality
SIO_000300: 3.029e0

MQ
type: SiteQuality
SIO_000300: 5.781e1

QD
type: SiteQuality
SIO_000300: 1.881e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.710688381004516e-5
allele num: 58456
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.06224771616741e-4
allele num: 9414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8874
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.388e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 7.47e0

DP
type: SiteQuality
SIO_000300: 1.545947e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.275895957544388e-5
allele num: 61052
num of homozygotes: 0

Latino
type: Population
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allele num: 10028
num of homozygotes: 0

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

African
type: Population
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15136
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MQ
type: SiteQuality
SIO_000300: 5.889e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.207e1

DP
type: SiteQuality
SIO_000300: 1.621401e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

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

Latino
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allele num: 10028
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637947978772194e-5
allele num: 61052
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.889e1

DP
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635429954535047e-5
allele num: 61146
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

DP
type: SiteQuality
SIO_000300: 1.626595e6

GenotypeQuality
all individuals: 1108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15596
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.068376068376068e-4
allele num: 9360
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 9.41e0

DP
type: SiteQuality
SIO_000300: 1.685035e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

GenotypeQuality
all individuals: 746
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 823
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4463
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570499733015045e-5
allele num: 63674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15672
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.83e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

DP
type: SiteQuality
SIO_000300: 1.694704e6

FS
type: SiteQuality
SIO_000300: 1.315e1

QD
type: SiteQuality
SIO_000300: 1.638e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.817e0

GenotypeQuality
all individuals: 1869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4429
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6481
bin: 9.75e1
variant carriers: 6

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.061571125265393e-4
allele num: 9420
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.870907390084191e-4
allele num: 10690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.706472969156914e-5
allele num: 63742
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.211e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

FS
type: SiteQuality
SIO_000300: 5.719e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.698556e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

QD
type: SiteQuality
SIO_000300: 1.08e1

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33982
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.135680913110282e-5
allele num: 63782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.535e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

DP
type: SiteQuality
SIO_000300: 1.701683e6

VQSLOD
type: SiteQuality
SIO_000300: -8.057e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.164e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

QD
type: SiteQuality
SIO_000300: 2.058e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 893
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6478
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34005
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
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variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10768
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.206563706563707e-4
allele num: 8288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.034e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: -4.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.705147e6

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6487
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551686683424883e-5
allele num: 64446
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

DP
type: SiteQuality
SIO_000300: 1.723479e6

FS
type: SiteQuality
SIO_000300: 2.021e0

VQSLOD
type: SiteQuality
SIO_000300: -6.097e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 7.06e0

GenotypeQuality
all individuals: 903
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4737
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6495
bin: 9.75e1
variant carriers: 6

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

African
type: Population
allele count: 1
allele frequency: 1.053296819043606e-4
allele num: 9494
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.198465963566635e-4
allele num: 8344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.197514796566576e-5
allele num: 64542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.726603e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.83e-2

FS
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4737
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6495
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.304375236414071e-5
allele num: 15862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64542
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.16e-1

DP
type: SiteQuality
SIO_000300: 1.726603e6

FS
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.83e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

GenotypeQuality
all individuals: 486
bin: 8.75e1
variant carriers: 39

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1521
bin: 7.75e1
variant carriers: 55

GenotypeQuality
all individuals: 579
bin: 3.75e1
variant carriers: 20

GenotypeQuality
all individuals: 340
bin: 4.25e1
variant carriers: 15

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 992
bin: 8.25e1
variant carriers: 59

GenotypeQuality
all individuals: 710
bin: 9.25e1
variant carriers: 31

GenotypeQuality
all individuals: 1266
bin: 7.25e1
variant carriers: 30

GenotypeQuality
all individuals: 568
bin: 4.75e1
variant carriers: 23

European (Non-Finnish)
type: Population
allele count: 7546
allele frequency: 1.158321309059651e-1
allele num: 65146
num of homozygotes: 421

Latino
type: Population
allele count: 467
allele frequency: 4.234675371780922e-2
allele num: 11028
num of homozygotes: 7

South Asian
type: Population
allele count: 2050
allele frequency: 1.274717074990673e-1
allele num: 16082
num of homozygotes: 140

African
type: Population
allele count: 260
allele frequency: 2.726510067114094e-2
allele num: 9536
num of homozygotes: 3

East Asian
type: Population
allele count: 4
allele frequency: 4.793863854266539e-4
allele num: 8344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 939
allele frequency: 1.439301042305334e-1
allele num: 6524
num of homozygotes: 59

Other
type: Population
allele count: 106
allele frequency: 1.201814058956916e-1
allele num: 882
num of homozygotes: 7

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

DP
type: SiteQuality
SIO_000300: 1.977024e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.29e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.409e1

GenotypeQuality
all individuals: 2275
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6966
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variant carriers: 3

GenotypeQuality
all individuals: 955
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.590234561991383e-4
allele num: 8356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.084e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

VQSLOD
type: SiteQuality
SIO_000300: -5.69e-2

DP
type: SiteQuality
SIO_000300: 1.892168e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

GenotypeQuality
all individuals: 5501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6963
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 603
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0517578125e-5
allele num: 65536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.902178e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e0

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

FS
type: SiteQuality
SIO_000300: 4.2e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
all individuals: 1872
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5502
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.19161105815062e-4
allele num: 8392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

FS
type: SiteQuality
SIO_000300: 3.012e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.15e0

QD
type: SiteQuality
SIO_000300: 1.444e1

VQSLOD
type: SiteQuality
SIO_000300: -4.599e-1

DP
type: SiteQuality
SIO_000300: 1.903073e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.283e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 675
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6961
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 591
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524808636516117e-5
allele num: 65582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16186
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 1.904481e6

VQSLOD
type: SiteQuality
SIO_000300: -1.216e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 5.332e0

QD
type: SiteQuality
SIO_000300: 7.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 684
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6964
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 954
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52114390021296e-5
allele num: 65740
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.748338081671415e-4
allele num: 8424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.968e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.202e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.914733e6

QD
type: SiteQuality
SIO_000300: 1.044e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34779
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6960
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 640
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.034126163391934e-4
allele num: 9670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.922579e6

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.113e0

FS
type: SiteQuality
SIO_000300: 9.742000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.175e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 1441
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34594
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6963
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65968
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.364625206904706e-4
allele num: 8458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.249e1

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.96e-1

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.432e0

VQSLOD
type: SiteQuality
SIO_000300: -6.035e-1

DP
type: SiteQuality
SIO_000300: 1.923e6

GenotypeQuality
all individuals: 5656
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1417
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 14
allele frequency: 1.234567901234568e-3
allele num: 11340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.580121888359964e-5
allele num: 65962
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 294
allele frequency: 3.037190082644628e-2
allele num: 9680
num of homozygotes: 4

South Asian
type: Population
allele count: 2
allele frequency: 1.225039813793948e-4
allele num: 16326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.519e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 1.930631e6

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

GenotypeQuality
all individuals: 34052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515059693351918e-5
allele num: 66004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.031e1

QD
type: SiteQuality
SIO_000300: 1.485e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.879e0

DP
type: SiteQuality
SIO_000300: 1.930903e6

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6945
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 961
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variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181474480151229e-4
allele num: 8464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66082
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

DP
type: SiteQuality
SIO_000300: 1.935692e6

FS
type: SiteQuality
SIO_000300: 1.3284e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.838e0

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

QD
type: SiteQuality
SIO_000300: 1.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

GenotypeQuality
all individuals: 643
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6945
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 965
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.179801793298726e-4
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 1.095e0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 1.936444e6

QD
type: SiteQuality
SIO_000300: 1.123e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

GenotypeQuality
all individuals: 962
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6949
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

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: 16368
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.013e0

FS
type: SiteQuality
SIO_000300: 9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

DP
type: SiteQuality
SIO_000300: 1.94041e6

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.432e0

QD
type: SiteQuality
SIO_000300: 6.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0