http://identifiers.org/exac.variant/17-39880924-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880924
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880924
    reference: chr 17
allele count: 1
allele frequency: 9.037178954217652e-6
allele num: 110654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.*29G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.*29G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+94G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1187G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.*29G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.*29G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+94G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42707G>T
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14144
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49005
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/17-39880925-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880925
    reference: chr 17
allele count: 1
allele frequency: 9.029997652200611e-6
allele num: 110742
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.*28T>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+93T>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.*28T>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1186T>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42706T>G
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.*28T>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.*28T>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+93T>G
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-39880929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880929
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880929
    reference: chr 17
allele count: 2
allele frequency: 1.803166360128386e-5
allele num: 110916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42702C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1182C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+89C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.*24C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.*24C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.*24C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.*24C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+89C>T
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

17-39880929-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880929
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880929
    reference: chr 17
allele count: 1
allele frequency: 9.015831800641928e-6
allele num: 110916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.*24C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+89C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.*24C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1182C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42702C>G
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.*24C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.*24C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+89C>G
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-39880931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880931
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880931
    reference: chr 17
allele count: 1
allele frequency: 9.007386056566384e-6
allele num: 111020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.*22C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.*22C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42700C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.*22C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+87C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.*22C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1180C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+87C>T
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

17-39880938-A-ATCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880938
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880941
    reference: chr 17
allele count: 1
allele frequency: 8.977627751642906e-6
allele num: 111388
alternate allele: ATCC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.*12_*14dupGGA
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.*12_*14dupGGA
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.*12_*14dupGGA
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+77_202+79dupGGA
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.*12_*14dupGGA
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+77_316+79dupGGA
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42690_909+42692dupGGA
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1170_39+1172dupGGA
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-39880939-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880939
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880939
    reference: chr 17
allele count: 3
allele frequency: 2.69183834613452e-5
allele num: 111448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.*14A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.*14A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1172A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+79A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+79A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.*14A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.*14A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42692A>G
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/17-39880944-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880945
    reference: chr 17
allele count: 1
allele frequency: 8.937668698496684e-6
allele num: 111886
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.*8_*9insT
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.*8_*9insT
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1166_39+1167insT
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+73_316+74insT
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.*8_*9insT
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.*8_*9insT
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+73_202+74insT
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42686_909+42687insT
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49008
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

17-39880944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880944
    reference: chr 17
allele count: 1
allele frequency: 8.937668698496684e-6
allele num: 111886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+74G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.*9G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1167G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42687G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.*9G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.*9G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.*9G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+74G>A
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49008
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS

17-39880944-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880942
    reference: chr 17
allele count: 1
allele frequency: 8.937668698496684e-6
allele num: 111886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1165_39+1166delAG
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+72_202+73delAG
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+72_316+73delAG
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.*7_*8delAG
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42685_909+42686delAG
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
reference allele: CCT
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-39880951-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880951
    reference: chr 17
allele count: 27
allele frequency: 2.400853636848657e-4
allele num: 112460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.*2A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.*2A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+67A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1160A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42680A>G
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.*2A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.*2A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+67A>G
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14167
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-39880957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880957
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880957
    reference: chr 17
allele count: 7
allele frequency: 6.202924235711121e-5
allele num: 112850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1805G>A
  hgvsp: ENSP00000343170.5:p.Arg602Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+61G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+61G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42674G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1154G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.2012G>A
  hgvsp: ENSP00000309392.5:p.Arg671Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1781G>A
  hgvsp: ENSP00000377513.2:p.Arg594Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1856G>A
  hgvsp: ENSP00000334002.4:p.Arg619Gln
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14171
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg619Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

17-39880958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880958
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880958
    reference: chr 17
allele count: 4
allele frequency: 3.530512453882681e-5
allele num: 113298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1855C>T
  hgvsp: ENSP00000334002.4:p.Arg619Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.2011C>T
  hgvsp: ENSP00000309392.5:p.Arg671Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1804C>T
  hgvsp: ENSP00000343170.5:p.Arg602Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+60C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+60C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1780C>T
  hgvsp: ENSP00000377513.2:p.Arg594Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42673C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1153C>T
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49008
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg619Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-39880962-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880962
    reference: chr 17
allele count: 1
allele frequency: 8.782098570274352e-6
allele num: 113868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1149G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.2007G>T
  hgvsp: ENST00000310778.5:c.2007G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+56G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1776G>T
  hgvsp: ENST00000393939.2:c.1776G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+56G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1851G>T
  hgvsp: ENST00000347901.4:c.1851G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42669G>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1800G>T
  hgvsp: ENST00000341193.5:c.1800G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser617Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-39880962-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880962
    reference: chr 17
allele count: 3
allele frequency: 2.634629571082306e-5
allele num: 113868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1800G>C
  hgvsp: ENST00000341193.5:c.1800G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.2007G>C
  hgvsp: ENST00000310778.5:c.2007G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1851G>C
  hgvsp: ENST00000347901.4:c.1851G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42669G>C
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1776G>C
  hgvsp: ENST00000393939.2:c.1776G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1149G>C
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+56G>C
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+56G>C
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14172
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49008
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser617Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-39880962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880962
    reference: chr 17
allele count: 2
allele frequency: 1.75641971405487e-5
allele num: 113868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1776G>A
  hgvsp: ENST00000393939.2:c.1776G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1149G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+56G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1800G>A
  hgvsp: ENST00000341193.5:c.1800G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1851G>A
  hgvsp: ENST00000347901.4:c.1851G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.2007G>A
  hgvsp: ENST00000310778.5:c.2007G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42669G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+56G>A
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser617Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

17-39880963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880963
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880963
    reference: chr 17
allele count: 8
allele frequency: 6.995942353435007e-5
allele num: 114352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1799C>T
  hgvsp: ENSP00000343170.5:p.Ser600Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+55C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+55C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.2006C>T
  hgvsp: ENSP00000309392.5:p.Ser669Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42668C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1850C>T
  hgvsp: ENSP00000334002.4:p.Ser617Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1775C>T
  hgvsp: ENSP00000377513.2:p.Ser592Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1148C>T
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14174
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser617Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-39880965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880965
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880965
    reference: chr 17
allele count: 4
allele frequency: 3.493144703519343e-5
allele num: 114510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42666G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1797G>A
  hgvsp: ENST00000341193.5:c.1797G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1773G>A
  hgvsp: ENST00000393939.2:c.1773G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1146G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.2004G>A
  hgvsp: ENST00000310778.5:c.2004G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1848G>A
  hgvsp: ENST00000347901.4:c.1848G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+53G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+53G>A
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49008
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser616Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

17-39880966-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880966
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880966
    reference: chr 17
allele count: 4
allele frequency: 3.474816269089772e-5
allele num: 115114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1145C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1847C>T
  hgvsp: ENSP00000334002.4:p.Ser616Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1796C>T
  hgvsp: ENSP00000343170.5:p.Ser599Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.2003C>T
  hgvsp: ENSP00000309392.5:p.Ser668Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1772C>T
  hgvsp: ENSP00000377513.2:p.Ser591Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+52C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+52C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42665C>T
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15256
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49458
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser616Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

17-39880966-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880966
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880966
    reference: chr 17
allele count: 2412
allele frequency: 2.095314210261132e-2
allele num: 115114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42665C>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.2003C>A
  hgvsp: ENSP00000309392.5:p.Ser668Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1847C>A
  hgvsp: ENSP00000334002.4:p.Ser616Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+52C>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1796C>A
  hgvsp: ENSP00000343170.5:p.Ser599Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1772C>A
  hgvsp: ENSP00000377513.2:p.Ser591Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+52C>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1145C>A
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 9.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 5.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 2.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 6.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 7.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 8.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 7.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 6.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 15256
  bin: 9.75e1
  variant carriers: 1561
genotype quality: GenotypeQuality
  all individuals: 49458
  bin: 9.75e1
  variant carriers: 2152
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Ser616Ter
num of homozygotes: 235
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-39880974-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880974
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880974
    reference: chr 17
allele count: 2
allele frequency: 1.717858860716004e-5
allele num: 116424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+44C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1788C>G
  hgvsp: ENSP00000343170.5:p.Ser596Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1839C>G
  hgvsp: ENSP00000334002.4:p.Ser613Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42657C>G
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1764C>G
  hgvsp: ENSP00000377513.2:p.Ser588Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1995C>G
  hgvsp: ENSP00000309392.5:p.Ser665Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+44C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1137C>G
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15191
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser613Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD

17-39880981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880981
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880981
    reference: chr 17
allele count: 16
allele frequency: 1.365001365001365e-4
allele num: 117216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1988G>A
  hgvsp: ENSP00000309392.5:p.Arg663Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1757G>A
  hgvsp: ENSP00000377513.2:p.Arg586Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+37G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+37G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1130G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1781G>A
  hgvsp: ENSP00000343170.5:p.Arg594Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1832G>A
  hgvsp: ENSP00000334002.4:p.Arg611Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42650G>A
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15199
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49069
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg611Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-39880982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880982
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880982
    reference: chr 17
allele count: 2
allele frequency: 1.700622427808578e-5
allele num: 117604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1987C>T
  hgvsp: ENSP00000309392.5:p.Arg663Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+36C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1831C>T
  hgvsp: ENSP00000334002.4:p.Arg611Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1780C>T
  hgvsp: ENSP00000343170.5:p.Arg594Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1129C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+36C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1756C>T
  hgvsp: ENSP00000377513.2:p.Arg586Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42649C>T
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4177
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg611Trp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-39880987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880987
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880987
    reference: chr 17
allele count: 3
allele frequency: 2.535325535798797e-5
allele num: 118328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1826C>T
  hgvsp: ENSP00000334002.4:p.Ala609Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1751C>T
  hgvsp: ENSP00000377513.2:p.Ala584Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42644C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1775C>T
  hgvsp: ENSP00000343170.5:p.Ala592Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1982C>T
  hgvsp: ENSP00000309392.5:p.Ala661Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+31C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1124C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+31C>T
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15200
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala609Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

17-39880988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880988
    reference: chr 17
allele count: 3
allele frequency: 2.534297492735014e-5
allele num: 118376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1123G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42643G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1825G>A
  hgvsp: ENSP00000334002.4:p.Ala609Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+30G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1750G>A
  hgvsp: ENSP00000377513.2:p.Ala584Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1774G>A
  hgvsp: ENSP00000343170.5:p.Ala592Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1981G>A
  hgvsp: ENSP00000309392.5:p.Ala661Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+30G>A
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15201
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala609Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS

17-39880989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880989
    reference: chr 17
allele count: 5
allele frequency: 4.210951843554717e-5
allele num: 118738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1773C>T
  hgvsp: ENST00000341193.5:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1122C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+29C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1749C>T
  hgvsp: ENST00000393939.2:c.1749C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1824C>T
  hgvsp: ENST00000347901.4:c.1824C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1980C>T
  hgvsp: ENST00000310778.5:c.1980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42642C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+29C>T
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15203
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49074
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala608Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-39880996-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39880996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39880996
    reference: chr 17
allele count: 1
allele frequency: 8.366660531115611e-6
allele num: 119522
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1817T>G
  hgvsp: ENSP00000334002.4:p.Leu606Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+22T>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1115T>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1742T>G
  hgvsp: ENSP00000377513.2:p.Leu581Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+22T>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1766T>G
  hgvsp: ENSP00000343170.5:p.Leu589Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1973T>G
  hgvsp: ENSP00000309392.5:p.Leu658Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42635T>G
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu606Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

17-39881003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881003
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881003
    reference: chr 17
allele count: 521
allele frequency: 4.335452518057451e-3
allele num: 120172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1759G>A
  hgvsp: ENSP00000343170.5:p.Gly587Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42628G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1735G>A
  hgvsp: ENSP00000377513.2:p.Gly579Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1810G>A
  hgvsp: ENSP00000334002.4:p.Gly604Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+15G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1108G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1966G>A
  hgvsp: ENSP00000309392.5:p.Gly656Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+15G>A
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15208
  bin: 9.75e1
  variant carriers: 371
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly604Arg
num of homozygotes: 11
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-39881004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881004
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881004
    reference: chr 17
allele count: 9
allele frequency: 7.480177529546702e-5
allele num: 120318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+14C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1107C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1734C>T
  hgvsp: ENST00000393939.2:c.1734C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1758C>T
  hgvsp: ENST00000341193.5:c.1758C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42627C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1965C>T
  hgvsp: ENST00000310778.5:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+14C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1809C>T
  hgvsp: ENST00000347901.4:c.1809C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15205
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49122
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His603His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

17-39881005-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881005
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881006
    reference: chr 17
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1807dupC
  hgvsp: ENSP00000334002.4:p.His603ProfsTer24
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+12dupC
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1105dupC
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+12dupC
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1732dupC
  hgvsp: ENSP00000377513.2:p.His578ProfsTer24
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1963dupC
  hgvsp: ENSP00000309392.5:p.His655ProfsTer24
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1756dupC
  hgvsp: ENSP00000343170.5:p.His586ProfsTer24
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42625dupC
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His603ProfsTer24
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-39881006-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881006
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881006
    reference: chr 17
allele count: 2
allele frequency: 1.659310390601666e-5
allele num: 120532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1105C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1807C>G
  hgvsp: ENSP00000334002.4:p.His603Asp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+12C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1756C>G
  hgvsp: ENSP00000343170.5:p.His586Asp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1963C>G
  hgvsp: ENSP00000309392.5:p.His655Asp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1732C>G
  hgvsp: ENSP00000377513.2:p.His578Asp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42625C>G
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+12C>G
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His603Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-39881007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881007
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881007
    reference: chr 17
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1806C>T
  hgvsp: ENST00000347901.4:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1731C>T
  hgvsp: ENST00000393939.2:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316+11C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202+11C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1104C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42624C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1755C>T
  hgvsp: ENST00000341193.5:c.1755C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1962C>T
  hgvsp: ENST00000310778.5:c.1962C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro602Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

17-39881018-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881018
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881018
    reference: chr 17
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1720G>C
  hgvsp: ENSP00000377513.2:p.Gly574Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.202G>C
  hgvsp: ENSP00000388981.1:p.Glu68Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42613G>C
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1951G>C
  hgvsp: ENSP00000309392.5:p.Gly651Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1093G>C
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1795G>C
  hgvsp: ENSP00000334002.4:p.Gly599Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.316G>C
  hgvsp: ENSP00000404640.1:p.Glu106Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1744G>C
  hgvsp: ENSP00000343170.5:p.Gly582Arg
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly599Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-39881019-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881019
    reference: chr 17
allele count: 2
allele frequency: 1.653794631782625e-5
allele num: 120934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1092A>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1743A>T
  hgvsp: ENSP00000343170.5:p.Lys581Asn
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.315A>T
  hgvsp: ENSP00000404640.1:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1794A>T
  hgvsp: ENSP00000334002.4:p.Lys598Asn
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1950A>T
  hgvsp: ENSP00000309392.5:p.Lys650Asn
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42612A>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.201A>T
  hgvsp: ENSP00000388981.1:p.Lys67Asn
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1719A>T
  hgvsp: ENSP00000377513.2:p.Lys573Asn
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15209
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys598Asn
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-39881019-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881019
    reference: chr 17
allele count: 2
allele frequency: 1.653794631782625e-5
allele num: 120934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1719A>C
  hgvsp: ENSP00000377513.2:p.Lys573Asn
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1794A>C
  hgvsp: ENSP00000334002.4:p.Lys598Asn
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.315A>C
  hgvsp: ENSP00000404640.1:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42612A>C
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1743A>C
  hgvsp: ENSP00000343170.5:p.Lys581Asn
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1092A>C
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1950A>C
  hgvsp: ENSP00000309392.5:p.Lys650Asn
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.201A>C
  hgvsp: ENSP00000388981.1:p.Lys67Asn
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15209
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys598Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

17-39881026-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881026
    reference: chr 17
allele count: 2
allele frequency: 1.652619401751776e-5
allele num: 121020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1085T>C
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.308T>C
  hgvsp: ENSP00000404640.1:p.Leu103Pro
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1943T>C
  hgvsp: ENSP00000309392.5:p.Leu648Pro
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42605T>C
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.194T>C
  hgvsp: ENSP00000388981.1:p.Leu65Pro
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1787T>C
  hgvsp: ENSP00000334002.4:p.Leu596Pro
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1736T>C
  hgvsp: ENSP00000343170.5:p.Leu579Pro
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1712T>C
  hgvsp: ENSP00000377513.2:p.Leu571Pro
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15210
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49136
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu596Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

17-39881027-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881027
    reference: chr 17
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1084C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42604C>G
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1711C>G
  hgvsp: ENSP00000377513.2:p.Leu571Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1786C>G
  hgvsp: ENSP00000334002.4:p.Leu596Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.193C>G
  hgvsp: ENSP00000388981.1:p.Leu65Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1942C>G
  hgvsp: ENSP00000309392.5:p.Leu648Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1735C>G
  hgvsp: ENSP00000343170.5:p.Leu579Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.307C>G
  hgvsp: ENSP00000404640.1:p.Leu103Val
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu596Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-39881030-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881030
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881030
    reference: chr 17
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1081A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1783A>G
  hgvsp: ENSP00000334002.4:p.Met595Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1708A>G
  hgvsp: ENSP00000377513.2:p.Met570Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1939A>G
  hgvsp: ENSP00000309392.5:p.Met647Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.190A>G
  hgvsp: ENSP00000388981.1:p.Met64Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.304A>G
  hgvsp: ENSP00000404640.1:p.Met102Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42601A>G
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1732A>G
  hgvsp: ENSP00000343170.5:p.Met578Val
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met595Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

17-39881032-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881032
    reference: chr 17
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1937A>C
  hgvsp: ENSP00000309392.5:p.Lys646Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.302A>C
  hgvsp: ENSP00000404640.1:p.Lys101Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1079A>C
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1730A>C
  hgvsp: ENSP00000343170.5:p.Lys577Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1706A>C
  hgvsp: ENSP00000377513.2:p.Lys569Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1781A>C
  hgvsp: ENSP00000334002.4:p.Lys594Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42599A>C
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.188A>C
  hgvsp: ENSP00000388981.1:p.Lys63Thr
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys594Thr
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: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-39881040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881040
    reference: chr 17
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1698G>A
  hgvsp: ENST00000393939.2:c.1698G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1071G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.180G>A
  hgvsp: ENST00000442364.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42591G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1722G>A
  hgvsp: ENST00000341193.5:c.1722G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.294G>A
  hgvsp: ENST00000458656.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1773G>A
  hgvsp: ENST00000347901.4:c.1773G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1929G>A
  hgvsp: ENST00000310778.5:c.1929G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu591Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-39881044-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881044
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881044
    reference: chr 17
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.176A>G
  hgvsp: ENSP00000388981.1:p.Gln59Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1925A>G
  hgvsp: ENSP00000309392.5:p.Gln642Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.290A>G
  hgvsp: ENSP00000404640.1:p.Gln97Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1694A>G
  hgvsp: ENSP00000377513.2:p.Gln565Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1769A>G
  hgvsp: ENSP00000334002.4:p.Gln590Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1718A>G
  hgvsp: ENSP00000343170.5:p.Gln573Arg
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1067A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42587A>G
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15213
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln590Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-39881047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881047
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881047
    reference: chr 17
allele count: 30
allele frequency: 2.476023835856126e-4
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1766G>A
  hgvsp: ENSP00000334002.4:p.Arg589Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1922G>A
  hgvsp: ENSP00000309392.5:p.Arg641Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1715G>A
  hgvsp: ENSP00000343170.5:p.Arg572Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1064G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.173G>A
  hgvsp: ENSP00000388981.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42584G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.287G>A
  hgvsp: ENSP00000404640.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1691G>A
  hgvsp: ENSP00000377513.2:p.Arg564Gln
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15225
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg589Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

17-39881048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881048
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881048
    reference: chr 17
allele count: 8
allele frequency: 6.601967386281111e-5
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1765C>T
  hgvsp: ENSP00000334002.4:p.Arg589Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1714C>T
  hgvsp: ENSP00000343170.5:p.Arg572Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.172C>T
  hgvsp: ENSP00000388981.1:p.Arg58Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1063C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42583C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.286C>T
  hgvsp: ENSP00000404640.1:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1921C>T
  hgvsp: ENSP00000309392.5:p.Arg641Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1690C>T
  hgvsp: ENSP00000377513.2:p.Arg564Trp
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15231
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg589Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-39881067-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881067
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881067
    reference: chr 17
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1671G>T
  hgvsp: ENSP00000377513.2:p.Trp557Cys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1746G>T
  hgvsp: ENSP00000334002.4:p.Trp582Cys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1695G>T
  hgvsp: ENSP00000343170.5:p.Trp565Cys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1902G>T
  hgvsp: ENSP00000309392.5:p.Trp634Cys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.153G>T
  hgvsp: ENSP00000388981.1:p.Trp51Cys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1044G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42564G>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.267G>T
  hgvsp: ENSP00000404640.1:p.Trp89Cys
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49151
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp582Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-39881067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881067
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881067
    reference: chr 17
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1746G>A
  hgvsp: ENSP00000334002.4:p.Trp582Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1695G>A
  hgvsp: ENSP00000343170.5:p.Trp565Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.153G>A
  hgvsp: ENSP00000388981.1:p.Trp51Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1044G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1671G>A
  hgvsp: ENSP00000377513.2:p.Trp557Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1902G>A
  hgvsp: ENSP00000309392.5:p.Trp634Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42564G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.267G>A
  hgvsp: ENSP00000404640.1:p.Trp89Ter
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp582Ter
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: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-39881075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881075
    reference: chr 17
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1687G>A
  hgvsp: ENSP00000343170.5:p.Ala563Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1036G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42556G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1663G>A
  hgvsp: ENSP00000377513.2:p.Ala555Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1894G>A
  hgvsp: ENSP00000309392.5:p.Ala632Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.259G>A
  hgvsp: ENSP00000404640.1:p.Ala87Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1738G>A
  hgvsp: ENSP00000334002.4:p.Ala580Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.145G>A
  hgvsp: ENSP00000388981.1:p.Ala49Thr
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala580Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-39881084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881084
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881084
    reference: chr 17
allele count: 4
allele frequency: 3.298316209575012e-5
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1729C>T
  hgvsp: ENSP00000334002.4:p.Gln577Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1654C>T
  hgvsp: ENSP00000377513.2:p.Gln552Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1027C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1885C>T
  hgvsp: ENSP00000309392.5:p.Gln629Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42547C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1678C>T
  hgvsp: ENSP00000343170.5:p.Gln560Ter
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-3C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.250C>T
  hgvsp: ENSP00000404640.1:p.Gln84Ter
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15234
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49155
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln577Ter
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-39881085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881085
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881085
    reference: chr 17
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1677C>T
  hgvsp: ENST00000341193.5:c.1677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.249C>T
  hgvsp: ENST00000458656.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1026C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1653C>T
  hgvsp: ENST00000393939.2:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-4C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1884C>T
  hgvsp: ENST00000310778.5:c.1884C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42546C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1728C>T
  hgvsp: ENST00000347901.4:c.1728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49156
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5816
  bin: 6.25e1
  variant carriers: 0
hgvs: c.139-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-39881099-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881099
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881099
    reference: chr 17
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1870A>G
  hgvsp: ENSP00000309392.5:p.Met624Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1714A>G
  hgvsp: ENSP00000334002.4:p.Met572Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-18A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1663A>G
  hgvsp: ENSP00000343170.5:p.Met555Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1012A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1639A>G
  hgvsp: ENSP00000377513.2:p.Met547Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42532A>G
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.235A>G
  hgvsp: ENSP00000404640.1:p.Met79Val
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met572Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

17-39881106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881106
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881106
    reference: chr 17
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1863C>T
  hgvsp: ENST00000310778.5:c.1863C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1707C>T
  hgvsp: ENST00000347901.4:c.1707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1632C>T
  hgvsp: ENST00000393939.2:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42525C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+1005C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.228C>T
  hgvsp: ENST00000458656.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-25C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1656C>T
  hgvsp: ENST00000341193.5:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15237
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His569His
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

17-39881113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881113
    reference: chr 17
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1856C>T
  hgvsp: ENSP00000309392.5:p.Pro619Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1649C>T
  hgvsp: ENSP00000343170.5:p.Pro550Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1625C>T
  hgvsp: ENSP00000377513.2:p.Pro542Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-32C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.221C>T
  hgvsp: ENSP00000404640.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1700C>T
  hgvsp: ENSP00000334002.4:p.Pro567Leu
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+998C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42518C>T
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5858
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro567Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

17-39881115-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881115
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881115
    reference: chr 17
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1698C>G
  hgvsp: ENST00000347901.4:c.1698C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1623C>G
  hgvsp: ENST00000393939.2:c.1623C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+996C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1854C>G
  hgvsp: ENST00000310778.5:c.1854C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.219C>G
  hgvsp: ENST00000458656.1:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-34C>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42516C>G
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1647C>G
  hgvsp: ENST00000341193.5:c.1647C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly566Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

17-39881121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881121
    reference: chr 17
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42510C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1848C>T
  hgvsp: ENST00000310778.5:c.1848C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+990C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1617C>T
  hgvsp: ENST00000393939.2:c.1617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1641C>T
  hgvsp: ENST00000341193.5:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-40C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.213C>T
  hgvsp: ENST00000458656.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1692C>T
  hgvsp: ENST00000347901.4:c.1692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly564Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-39881124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881124
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881124
    reference: chr 17
allele count: 3
allele frequency: 2.472595400972554e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-43C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1638C>T
  hgvsp: ENST00000341193.5:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.210C>T
  hgvsp: ENST00000458656.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1845C>T
  hgvsp: ENST00000310778.5:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1614C>T
  hgvsp: ENST00000393939.2:c.1614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42507C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1689C>T
  hgvsp: ENST00000347901.4:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+987C>T
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15252
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser563Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-39881137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881137
    reference: chr 17
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1625C>T
  hgvsp: ENSP00000343170.5:p.Ala542Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-56C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42494C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+974C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1601C>T
  hgvsp: ENSP00000377513.2:p.Ala534Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1832C>T
  hgvsp: ENSP00000309392.5:p.Ala611Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.197C>T
  hgvsp: ENSP00000404640.1:p.Ala66Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1676C>T
  hgvsp: ENSP00000334002.4:p.Ala559Val
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala559Val
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

17-39881137-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881137
    reference: chr 17
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+974C>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1625C>A
  hgvsp: ENSP00000343170.5:p.Ala542Asp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42494C>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1676C>A
  hgvsp: ENSP00000334002.4:p.Ala559Asp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1601C>A
  hgvsp: ENSP00000377513.2:p.Ala534Asp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.197C>A
  hgvsp: ENSP00000404640.1:p.Ala66Asp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-56C>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1832C>A
  hgvsp: ENSP00000309392.5:p.Ala611Asp
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala559Asp
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-39881138-CTGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881138
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881135
    reference: chr 17
allele count: 8
allele frequency: 6.593479049220321e-5
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-60_139-58delTCA
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1828_1830delTCA
  hgvsp: ENSP00000309392.5:p.Ser610del
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42490_909+42492delTCA
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+970_39+972delTCA
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1597_1599delTCA
  hgvsp: ENSP00000377513.2:p.Ser533del
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.193_195delTCA
  hgvsp: ENSP00000404640.1:p.Ser65del
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1672_1674delTCA
  hgvsp: ENSP00000334002.4:p.Ser558del
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1621_1623delTCA
  hgvsp: ENSP00000343170.5:p.Ser541del
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15258
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49174
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser558del
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: CTGA
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

17-39881152-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881152
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881152
    reference: chr 17
allele count: 7
allele frequency: 5.769008884273682e-5
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1610A>C
  hgvsp: ENSP00000343170.5:p.Asn537Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1817A>C
  hgvsp: ENSP00000309392.5:p.Asn606Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+959A>C
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1661A>C
  hgvsp: ENSP00000334002.4:p.Asn554Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.182A>C
  hgvsp: ENSP00000404640.1:p.Asn61Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42479A>C
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1586A>C
  hgvsp: ENSP00000377513.2:p.Asn529Thr
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-71A>C
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15261
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn554Thr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-39881156-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881156
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881156
    reference: chr 17
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.178A>G
  hgvsp: ENSP00000404640.1:p.Met60Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+955A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42475A>G
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1813A>G
  hgvsp: ENSP00000309392.5:p.Met605Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1582A>G
  hgvsp: ENSP00000377513.2:p.Met528Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-75A>G
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1606A>G
  hgvsp: ENSP00000343170.5:p.Met536Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1657A>G
  hgvsp: ENSP00000334002.4:p.Met553Val
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5866
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met553Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-39881158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881158
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881158
    reference: chr 17
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1655G>A
  hgvsp: ENSP00000334002.4:p.Arg552Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+953G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1580G>A
  hgvsp: ENSP00000377513.2:p.Arg527Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.176G>A
  hgvsp: ENSP00000404640.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1811G>A
  hgvsp: ENSP00000309392.5:p.Arg604Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1604G>A
  hgvsp: ENSP00000343170.5:p.Arg535Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42473G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-77G>A
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15262
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49177
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg552Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-39881159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881159
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881159
    reference: chr 17
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.175C>T
  hgvsp: ENSP00000404640.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42472C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1810C>T
  hgvsp: ENSP00000309392.5:p.Arg604Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1579C>T
  hgvsp: ENSP00000377513.2:p.Arg527Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+952C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1654C>T
  hgvsp: ENSP00000334002.4:p.Arg552Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1603C>T
  hgvsp: ENSP00000343170.5:p.Arg535Trp
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-78C>T
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15262
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg552Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

17-39881160-C-CGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881160
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881162
    reference: chr 17
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: CGT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.172_173dupAC
  hgvsp: ENSP00000404640.1:p.Met60GlyfsTer2
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.139-81_139-80dupAC
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42469_909+42470dupAC
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1600_1601dupAC
  hgvsp: ENSP00000343170.5:p.Met536GlyfsTer2
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1576_1577dupAC
  hgvsp: ENSP00000377513.2:p.Met528GlyfsTer2
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1651_1652dupAC
  hgvsp: ENSP00000334002.4:p.Met553GlyfsTer2
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1807_1808dupAC
  hgvsp: ENSP00000309392.5:p.Met605GlyfsTer2
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+949_39+950dupAC
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met553GlyfsTer2
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-39881184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881184
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881184
    reference: chr 17
allele count: 11
allele frequency: 9.067528356634133e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1578G>A
  hgvsp: ENST00000341193.5:c.1578G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1554G>A
  hgvsp: ENST00000393939.2:c.1554G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1629G>A
  hgvsp: ENST00000347901.4:c.1629G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.150G>A
  hgvsp: ENST00000458656.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+927G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.138+72G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1785G>A
  hgvsp: ENST00000310778.5:c.1785G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42447G>A
  variant of: http://identifiers.org/hgnc/6207
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15274
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val543Val
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: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-39881186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881186
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881186
    reference: chr 17
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1552G>A
  hgvsp: ENSP00000377513.2:p.Val518Met
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1627G>A
  hgvsp: ENSP00000334002.4:p.Val543Met
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+925G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42445G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1783G>A
  hgvsp: ENSP00000309392.5:p.Val595Met
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1576G>A
  hgvsp: ENSP00000343170.5:p.Val526Met
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.138+70G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.148G>A
  hgvsp: ENSP00000404640.1:p.Val50Met
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15275
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val543Met
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

17-39881190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881190
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881190
    reference: chr 17
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42441G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+921G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.138+66G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1572G>A
  hgvsp: ENST00000341193.5:c.1572G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1623G>A
  hgvsp: ENST00000347901.4:c.1623G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.144G>A
  hgvsp: ENST00000458656.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1548G>A
  hgvsp: ENST00000393939.2:c.1548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1779G>A
  hgvsp: ENST00000310778.5:c.1779G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15275
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu541Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-39881201-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881201
    reference: chr 17
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1561G>C
  hgvsp: ENSP00000343170.5:p.Glu521Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.138+55G>C
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.133G>C
  hgvsp: ENSP00000404640.1:p.Glu45Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1612G>C
  hgvsp: ENSP00000334002.4:p.Glu538Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1537G>C
  hgvsp: ENSP00000377513.2:p.Glu513Gln
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42430G>C
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+910G>C
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1768G>C
  hgvsp: ENSP00000309392.5:p.Glu590Gln
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15278
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu538Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

17-39881201-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881201
    reference: chr 17
allele count: 5
allele frequency: 4.122351389232418e-5
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1537G>A
  hgvsp: ENSP00000377513.2:p.Glu513Lys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1561G>A
  hgvsp: ENSP00000343170.5:p.Glu521Lys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1612G>A
  hgvsp: ENSP00000334002.4:p.Glu538Lys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.138+55G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.133G>A
  hgvsp: ENSP00000404640.1:p.Glu45Lys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+910G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42430G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1768G>A
  hgvsp: ENSP00000309392.5:p.Glu590Lys
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15278
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu538Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

17-39881202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881202
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881202
    reference: chr 17
allele count: 4
allele frequency: 3.297881111385935e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1611C>T
  hgvsp: ENST00000347901.4:c.1611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1560C>T
  hgvsp: ENST00000341193.5:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42429C>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+909C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1536C>T
  hgvsp: ENST00000393939.2:c.1536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.138+54C>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.132C>T
  hgvsp: ENST00000458656.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1767C>T
  hgvsp: ENST00000310778.5:c.1767C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15281
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr537Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

17-39881227-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881227
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881227
    reference: chr 17
allele count: 3
allele frequency: 2.473655568198684e-5
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.138+29A>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42404A>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+884A>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.107A>T
  hgvsp: ENSP00000404640.1:p.Glu36Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1586A>T
  hgvsp: ENSP00000334002.4:p.Glu529Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1511A>T
  hgvsp: ENSP00000377513.2:p.Glu504Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1535A>T
  hgvsp: ENSP00000343170.5:p.Glu512Val
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1742A>T
  hgvsp: ENSP00000309392.5:p.Glu581Val
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15283
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu529Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

17-39881231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881231
    reference: chr 17
allele count: 4
allele frequency: 3.298098646130506e-5
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+880G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.103G>A
  hgvsp: ENSP00000404640.1:p.Glu35Lys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1507G>A
  hgvsp: ENSP00000377513.2:p.Glu503Lys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.138+25G>A
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1531G>A
  hgvsp: ENSP00000343170.5:p.Glu511Lys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1738G>A
  hgvsp: ENSP00000309392.5:p.Glu580Lys
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42400G>A
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1582G>A
  hgvsp: ENSP00000334002.4:p.Glu528Lys
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15286
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu528Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-39881232-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39881232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39881232
    reference: chr 17
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000377513
  ensembl transcript: ENST00000393939
  gene symbol: HAP1
  hgvsc: ENST00000393939.2:c.1506G>T
  hgvsp: ENSP00000377513.2:p.Met502Ile
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000404640
  ensembl transcript: ENST00000458656
  gene symbol: HAP1
  hgvsc: ENST00000458656.1:c.102G>T
  hgvsp: ENSP00000404640.1:p.Met34Ile
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000397242
  ensembl transcript: ENST00000455021
  gene symbol: HAP1
  hgvsc: ENST00000455021.1:c.39+879G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000343170
  ensembl transcript: ENST00000341193
  gene symbol: HAP1
  hgvsc: ENST00000341193.5:c.1530G>T
  hgvsp: ENSP00000343170.5:p.Met510Ile
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173801
  ensembl protein: ENSP00000441751
  ensembl transcript: ENST00000540235
  gene symbol: JUP
  hgvsc: ENST00000540235.1:c.909+42399G>T
  variant of: http://identifiers.org/hgnc/6207
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000388981
  ensembl transcript: ENST00000442364
  gene symbol: HAP1
  hgvsc: ENST00000442364.1:c.138+24G>T
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000334002
  ensembl transcript: ENST00000347901
  gene symbol: HAP1
  hgvsc: ENST00000347901.4:c.1581G>T
  hgvsp: ENSP00000334002.4:p.Met527Ile
  variant of: http://identifiers.org/hgnc/4812
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173805
  ensembl protein: ENSP00000309392
  ensembl transcript: ENST00000310778
  gene symbol: HAP1
  hgvsc: ENST00000310778.5:c.1737G>T
  hgvsp: ENSP00000309392.5:p.Met579Ile
  variant of: http://identifiers.org/hgnc/4812
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15286
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met527Ile
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 552
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63784
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.001001001001001e-4
allele num: 9990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.45e-1

DP
type: SiteQuality
SIO_000300: 4.345473e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.543e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

FS
type: SiteQuality
SIO_000300: 1.415e0

MQ
type: SiteQuality
SIO_000300: 5.414e1

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49004
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 295
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567152483936687e-5
allele num: 63810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

DP
type: SiteQuality
SIO_000300: 4.346102e6

FS
type: SiteQuality
SIO_000300: 5.604e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.854e1

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.454e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49006
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566366968453369e-5
allele num: 63842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 4.349224e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

GenotypeQuality
all individuals: 396
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49006
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566366968453369e-5
allele num: 63842
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 4.349224e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

GenotypeQuality
all individuals: 550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49007
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 264
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565239168544954e-5
allele num: 63888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.656e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

DP
type: SiteQuality
SIO_000300: 4.350662e6

QD
type: SiteQuality
SIO_000300: 2.84e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

GenotypeQuality
all individuals: 49006
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 209
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63968
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.355553e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 2.574e0

MQRankSum
type: SiteQuality
SIO_000300: -1.652e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.541e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.758e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49007
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 6.75e1
variant carriers: 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: 9948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.125976867771179e-5
allele num: 63980
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.281e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 4.356138e6

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

FS
type: SiteQuality
SIO_000300: 1.262e0

GenotypeQuality
all individuals: 799
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64098
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.96e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

DP
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SIO_000300: 4.360219e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.228e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 64098
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.773260359655981e-5
allele num: 10232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 4.360219e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

QD
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SIO_000300: 1.228e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 5.96e-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: 1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64098
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.938382031405287e-5
allele num: 10062
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.228e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

InbreedingCoeff
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SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.96e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.360219e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556178026766262e-5
allele num: 64260
num of homozygotes: 0

East Asian
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allele count: 26
allele frequency: 3.026070763500931e-3
allele num: 8592
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

DP
type: SiteQuality
SIO_000300: 4.366723e6

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10086
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.164222873900293e-5
allele num: 10912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.326328224577984e-5
allele num: 64334
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.372258e6

QD
type: SiteQuality
SIO_000300: 1.272e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.201e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

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

African
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allele count: 1
allele frequency: 9.897070467141726e-5
allele num: 10104
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.654771140418929e-5
allele num: 64450
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 4.373436e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 4.956e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.161e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.16198001394376e-4
allele num: 8606
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11588
num of homozygotes: 0

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

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

African
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allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: -8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11588
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.643819076808767e-5
allele num: 64602
num of homozygotes: 0

BaseQRankSum
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QD
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FS
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ClippingRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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South Asian
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.095879384539178e-5
allele num: 64602
num of homozygotes: 0

European (Finnish)
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allele num: 6614
num of homozygotes: 0

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

GenotypeQuality
all individuals: 49007
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.090043878623076e-5
allele num: 64724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.929994084007099e-4
allele num: 10142
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11916
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.135e0

QD
type: SiteQuality
SIO_000300: 1.274e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 4.38227e6

GenotypeQuality
all individuals: 3069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 556
bin: 8.25e1
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GenotypeQuality
all individuals: 1094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.494180246092451e-4
allele num: 12028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544115376300917e-5
allele num: 64762
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 1.947e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.144e1

DP
type: SiteQuality
SIO_000300: 4.384704e6

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

GenotypeQuality
all individuals: 3225
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
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GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.065817067268914e-5
allele num: 12398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540594669542443e-5
allele num: 64910
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 4.567026e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.651e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

QD
type: SiteQuality
SIO_000300: 1.476e1

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 534
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 522
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 7.394854413803728e-4
allele num: 64910
num of homozygotes: 1

Latino
type: Population
allele count: 108
allele frequency: 9.3782563390066e-3
allele num: 11516
num of homozygotes: 1

East Asian
type: Population
allele count: 4
allele frequency: 4.642525533890436e-4
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 2243
allele frequency: 2.194716242661448e-1
allele num: 10220
num of homozygotes: 233

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

Other
type: Population
allele count: 4
allele frequency: 4.761904761904762e-3
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.226326826907566e-4
allele num: 12398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

FS
type: SiteQuality
SIO_000300: 5.36e-1

DP
type: SiteQuality
SIO_000300: 4.567026e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.651e-1

QD
type: SiteQuality
SIO_000300: 1.476e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 3.25e1
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GenotypeQuality
all individuals: 3717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49065
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2536
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.494004796163069e-5
allele num: 13344
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 4.532627e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.406e0

FS
type: SiteQuality
SIO_000300: 1.025e1

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

GenotypeQuality
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
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variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
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variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 8.802816901408451e-4
allele num: 10224
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.647598654022637e-5
allele num: 65380
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.432254368375824e-4
allele num: 13964
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 4.542273e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.17e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.268e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 457
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49068
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 294
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.039279177812192e-5
allele num: 14206
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65498
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

DP
type: SiteQuality
SIO_000300: 4.544575e6

FS
type: SiteQuality
SIO_000300: 2.454e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.169e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

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

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49070
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 606
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65670
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.357588922074396e-4
allele num: 14732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.111e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.185e1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 4.55175e6

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49069
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 381
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 2.03334688897926e-4
allele num: 14754
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65702
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 4.554033e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e0

FS
type: SiteQuality
SIO_000300: 1.742e0

GenotypeQuality
all individuals: 310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03960606705371e-5
allele num: 65798
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15002
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 2.447e0

DP
type: SiteQuality
SIO_000300: 4.557245e6

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.659e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.233e0

QD
type: SiteQuality
SIO_000300: 1.271e1

GenotypeQuality
all individuals: 673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 408
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15560
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514830187535977e-5
allele num: 66014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 4.566832e6

QD
type: SiteQuality
SIO_000300: 1.069e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.385e0

MQ
type: SiteQuality
SIO_000300: 5.848e1

GenotypeQuality
all individuals: 5110
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 705
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49169
bin: 9.75e1
variant carriers: 508

GenotypeQuality
all individuals: 763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 465
allele frequency: 4.525107045543013e-2
allele num: 10276
num of homozygotes: 11

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

East Asian
type: Population
allele count: 4
allele frequency: 4.636068613815484e-4
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.26017278076875e-5
allele num: 15974
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 2.160387141375735e-3
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.776092801256684e-4
allele num: 66206
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

DP
type: SiteQuality
SIO_000300: 4.581185e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

GenotypeQuality
all individuals: 498
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.244245365186015e-4
allele num: 16074
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.869497467861317e-4
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.339e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 4.57364e6

GenotypeQuality
all individuals: 779
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.205783790492739e-5
allele num: 16114
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.961e0

MQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 7.23e-1

QD
type: SiteQuality
SIO_000300: 3.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e0

DP
type: SiteQuality
SIO_000300: 4.57426e6

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49119
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.151e0

FS
type: SiteQuality
SIO_000300: 2.439e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
type: SiteQuality
SIO_000300: 1.229e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.576166e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5445
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49120
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.172077521293668e-5
allele num: 16202
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

MQRankSum
type: SiteQuality
SIO_000300: -1.544e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

FS
type: SiteQuality
SIO_000300: 3.074e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.213e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.02e-2

QD
type: SiteQuality
SIO_000300: 1.179e1

DP
type: SiteQuality
SIO_000300: 4.576952e6

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1720
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

FS
type: SiteQuality
SIO_000300: 1.264e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.284e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 4.582434e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.815e0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49134
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5594
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.93050193050193e-4
allele num: 10360
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.683e0

FS
type: SiteQuality
SIO_000300: 2.443e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 4.582832e6

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.493e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

GenotypeQuality
all individuals: 825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.582832e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 2.443e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.683e0

QD
type: SiteQuality
SIO_000300: 1.493e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

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

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.115e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

DP
type: SiteQuality
SIO_000300: 4.584197e6

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.743e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

QD
type: SiteQuality
SIO_000300: 1.126e1

FS
type: SiteQuality
SIO_000300: 1.684e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

DP
type: SiteQuality
SIO_000300: 4.58441e6

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

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 839
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GenotypeQuality
all individuals: 804
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.103e0

QD
type: SiteQuality
SIO_000300: 1.399e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

DP
type: SiteQuality
SIO_000300: 4.584901e6

MQRankSum
type: SiteQuality
SIO_000300: -1.068e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 1.099e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 4.585144e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.753e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 30
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GenotypeQuality
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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: 10
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5640
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.585981e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.703e0

QD
type: SiteQuality
SIO_000300: 1.148e1

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

FS
type: SiteQuality
SIO_000300: 8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
all individuals: 465
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.963e0

FS
type: SiteQuality
SIO_000300: 3.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.08e-2

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.412e1

MQRankSum
type: SiteQuality
SIO_000300: -1.364e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 30

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003544182134919e-5
allele num: 66588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 2.40940632228219e-3
allele num: 10376
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.438e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 5
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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: 49149
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 35
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.508409418548775e-5
allele num: 66592
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.425e1

DP
type: SiteQuality
SIO_000300: 4.589486e6

GenotypeQuality
all individuals: 5734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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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
all individuals: 810
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 3.54e0

QD
type: SiteQuality
SIO_000300: 1.312e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 4.590716e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.959e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.959e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 4.590716e6

FS
type: SiteQuality
SIO_000300: 3.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.454e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e0

VQSLOD
type: SiteQuality
SIO_000300: -3.221e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.137e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.34e1

DP
type: SiteQuality
SIO_000300: 4.591309e6

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5806
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variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

FS
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 4.592111e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.747e0

QD
type: SiteQuality
SIO_000300: 1.402e1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

GenotypeQuality
all individuals: 118
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.328e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
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SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.807e0

FS
type: SiteQuality
SIO_000300: 1.549e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
SIO_000300: 4.592283e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 4.492e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 4.592793e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.472e1

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 1

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.42e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.23e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.593196e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 1.88e-1

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.64e-2

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 927
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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: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

DP
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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SIO_000300: 1.324e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

South Asian
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8648
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

South Asian
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MQRankSum
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele frequency: 9.615384615384615e-5
allele num: 10400
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South Asian
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

East Asian
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

InbreedingCoeff
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SIO_000300: 1.0e-4

ClippingRankSum
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VQSLOD
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.049758555532228e-4
allele num: 66682
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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African
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allele num: 10398
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South Asian
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VQSLOD
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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allele num: 906
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 8.997390756680563e-5
allele num: 66686
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African
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Latino
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MQ
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BaseQRankSum
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QD
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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East Asian
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Other
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InbreedingCoeff
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FS
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QD
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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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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East Asian
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South Asian
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African
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Latino
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Other
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.157139551029854e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

African
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allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
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Other
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 10
allele frequency: 1.499700059988002e-4
allele num: 66680
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Other
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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FS
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

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

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

East Asian
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South Asian
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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African
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Latino
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African
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South Asian
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East Asian
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European (Finnish)
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MQRankSum
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DP
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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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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South Asian
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Latino
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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FS
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MQ
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VQSLOD
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 949
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000420029402058e-5
allele num: 66662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.606744e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.363e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1