8-193041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193041
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193041
    reference: chr 8
allele count: 2
allele frequency: 1.956755699050974e-5
allele num: 102210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+28G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+28G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+28G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.471G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+28G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+28G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+28G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+28G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+28G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+28G>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11198
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

8-193048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193048
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193048
    reference: chr 8
allele count: 317
allele frequency: 3.413667592772071e-3
allele num: 92862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.478C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+35C>T
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 1.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 2.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13465
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 2.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 2
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS

8-193049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193049
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193049
    reference: chr 8
allele count: 8
allele frequency: 8.652203067205987e-5
allele num: 92462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.479G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+36G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+36G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+36G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+36G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+36G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+36G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+36G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+36G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+36G>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15844
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9393
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13772
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

8-193056-TTCAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193056
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193052
    reference: chr 8
allele count: 2
allele frequency: 2.316101537891421e-5
allele num: 86352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.494_497delCTCA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+51_400+54delCTCA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+51_139+54delCTCA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+51_139+54delCTCA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+51_139+54delCTCA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+51_139+54delCTCA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+51_34+54delCTCA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+51_139+54delCTCA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+51_139+54delCTCA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+51_139+54delCTCA
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19107
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: TTCAC
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS

8-193063-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193063
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193061
    reference: chr 8
allele count: 1
allele frequency: 1.25624984296877e-5
allele num: 79602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+52_139+53delTC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+52_34+53delTC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+52_139+53delTC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+52_139+53delTC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.495_496delTC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+52_139+53delTC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+52_400+53delTC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+52_139+53delTC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+52_139+53delTC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+52_139+53delTC
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: ACT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

8-193065-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193065
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193065
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 78032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.495T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+52T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+52T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+52T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+52T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+52T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+52T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+52T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+52T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+52T>C
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19164
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

8-193075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193075
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193075
    reference: chr 8
allele count: 4
allele frequency: 5.928385107896609e-5
allele num: 67472
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+62C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+62C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+62C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.505C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+62C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+62C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+62C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+62C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+62C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+62C>T
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22603
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

8-193077-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193077
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193077
    reference: chr 8
allele count: 1
allele frequency: 1.489291990587675e-5
allele num: 67146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.507G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+64G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+64G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+64G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+64G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+64G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+64G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+64G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+64G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+64G>C
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21435
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

8-193086-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193086
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193086
    reference: chr 8
allele count: 1
allele frequency: 1.758334505556337e-5
allele num: 56872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+73T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+73T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+73T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.516T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+73T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+73T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+73T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+73T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+73T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+73T>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9786
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-193098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193098
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193098
    reference: chr 8
allele count: 3
allele frequency: 7.726383022561038e-5
allele num: 38828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+85C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.528C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+85C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+85C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+85C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+85C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+85C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+85C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+85C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+85C>T
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22481
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14709
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

8-193099-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193099
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193099
    reference: chr 8
allele count: 239
allele frequency: 6.323755093401069e-3
allele num: 37794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+86G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+86G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+86G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+86G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+86G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+86G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+86G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+86G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.529G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+86G>T
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14209
  bin: 1.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22572
  bin: 7.5e0
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 17724
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 11
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

8-193099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193099
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193099
    reference: chr 8
allele count: 2
allele frequency: 5.291845266444409e-5
allele num: 37794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+86G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+86G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+86G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+86G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.529G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+86G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+86G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+86G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+86G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+86G>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14209
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18643
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

8-193101-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193101
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193101
    reference: chr 8
allele count: 7
allele frequency: 2.38452105191443e-4
allele num: 29356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.531G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+88G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+88G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+88G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+88G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+88G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+88G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+88G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+88G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+88G>C
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23175
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20955
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

8-193104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193104
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193104
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 29468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.534T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+91T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+91T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+91T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+91T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+91T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+91T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+91T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+91T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+91T>C
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23397
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20084
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

8-193111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193111
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193111
    reference: chr 8
allele count: 18
allele frequency: 7.233563735733804e-4
allele num: 24884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+98G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+98G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+98G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+98G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+98G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+98G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.541G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+98G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+98G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+98G>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24145
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6613
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15935
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

8-193115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193115
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193115
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 22334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+102T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+102T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.545T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+102T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+102T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+102T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+102T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+102T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+102T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+102T>C
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25008
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/8-193116-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193116
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193116
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 22238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+103C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+103C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+103C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.546C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+103C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+103C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+103C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+103C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+103C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+103C>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25019
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7593
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

8-193116-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193116
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193116
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 22238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+103C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+103C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+103C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+103C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+103C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+103C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.546C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+103C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+103C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+103C>G
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25019
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/8-193118-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193118
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193118
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 21388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+105C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+105C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+105C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+105C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+105C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+105C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.548C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+105C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+105C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+105C>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

8-193118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193118
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193118
    reference: chr 8
allele count: 1
allele frequency: 4.67551898260707e-5
allele num: 21388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.139+105C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.139+105C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.548C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.400+105C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.139+105C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+105C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.34+105C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.139+105C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.139+105C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.139+105C>T
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22261
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7894
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

8-193673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193673
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193673
    reference: chr 8
allele count: 3
allele frequency: 2.484019474712682e-5
allele num: 120772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-49A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-49A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-49A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-49A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-49A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1103A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-49A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-49A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+660A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-49A>G
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

8-193678-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193678
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193678
    reference: chr 8
allele count: 6
allele frequency: 4.967956679417755e-5
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1108T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-44T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-44T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-44T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-44T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-44T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+665T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-44T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-44T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-44T>G
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

8-193681-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193681
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193681
    reference: chr 8
allele count: 4
allele frequency: 3.312135665076842e-5
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-41G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1111G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-41G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-41G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+668G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-41G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-41G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-41G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-41G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-41G>T
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

8-193686-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193686
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193686
    reference: chr 8
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+673G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-36G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-36G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-36G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-36G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-36G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1116G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-36G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-36G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-36G>T
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

8-193687-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193687
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193687
    reference: chr 8
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-35A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+674A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-35A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1117A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-35A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-35A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-35A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-35A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-35A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-35A>G
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-193699-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193699
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193699
    reference: chr 8
allele count: 25
allele frequency: 2.066218159578161e-4
allele num: 120994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-23A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-23A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-23A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-23A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-23A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-23A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1129A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-23A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-23A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+686A>C
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13525
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

8-193701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193701
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193701
    reference: chr 8
allele count: 13
allele frequency: 1.074309136586011e-4
allele num: 121008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-21G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-21G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-21G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1131G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-21G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+688G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-21G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-21G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-21G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-21G>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

8-193703-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193703
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193703
    reference: chr 8
allele count: 4
allele frequency: 3.304692663582287e-5
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-19A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-19A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1133A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-19A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-19A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+690A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-19A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-19A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-19A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-19A>T
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-193705-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193705
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193704
    reference: chr 8
allele count: 4
allele frequency: 3.304583457255213e-5
allele num: 121044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1140delT
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-12delT
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-12delT
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+697delT
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-12delT
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-12delT
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-12delT
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-12delT
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-12delT
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-12delT
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
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: CT
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum

8-193707-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193707
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193707
    reference: chr 8
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-15T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-15T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-15T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-15T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-15T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-15T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-15T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1137T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-15T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+694T>G
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-193710-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193710
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193710
    reference: chr 8
allele count: 3
allele frequency: 2.476473501733531e-5
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-12T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-12T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-12T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-12T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1140T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-12T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-12T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-12T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+697T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-12T>C
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

8-193714-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193714
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193714
    reference: chr 8
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+701C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1144C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-8C>G
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: c.140-8C>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-193715-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193715
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193715
    reference: chr 8
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-7A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-7A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-7A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1145A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-7A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+702A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-7A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-7A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-7A>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-7A>C
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.140-7A>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

8-193719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193719
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193719
    reference: chr 8
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.140-3C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.140-3C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.35-3C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1149C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.401-3C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+706C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.140-3C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.140-3C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.140-3C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.140-3C>T
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: c.140-3C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

8-193722-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193722
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193721
    reference: chr 8
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1153delC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.36delC
  hgvsp: ENSP00000476799.1:p.Lys13AsnfsTer15
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.141delC
  hgvsp: ENSP00000430650.1:p.Lys48AsnfsTer15
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.141delC
  hgvsp: ENSP00000429671.1:p.Lys48AsnfsTer15
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.141delC
  hgvsp: ENSP00000477126.1:p.Lys48AsnfsTer15
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.141delC
  hgvsp: ENSP00000381613.1:p.Lys48AsnfsTer15
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.141delC
  hgvsp: ENSP00000430552.1:p.Lys48AsnfsTer15
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+710delC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.141delC
  hgvsp: ENSP00000310033.4:p.Lys48AsnfsTer15
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.402delC
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys48AsnfsTer15
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: GC
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-193723-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193723
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193723
    reference: chr 8
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.36C>A
  hgvsp: ENST00000518320.2:c.36C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.141C>A
  hgvsp: ENST00000518414.1:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.402C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.141C>A
  hgvsp: ENST00000398612.1:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.141C>A
  hgvsp: ENST00000308811.4:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.141C>A
  hgvsp: ENST00000523162.1:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1153C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+710C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.141C>A
  hgvsp: ENST00000522866.1:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.141C>A
  hgvsp: ENST00000521145.1:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.141C>A
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

8-193728-A-AGCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193728
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193732
    reference: chr 8
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: AGCTC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.42_45dupGCTC
  hgvsp: ENSP00000476799.1:p.Cys16AlafsTer27
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.408_411dupGCTC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+716_139+719dupGCTC
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.147_150dupGCTC
  hgvsp: ENSP00000310033.4:p.Cys51AlafsTer27
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.147_150dupGCTC
  hgvsp: ENSP00000381613.1:p.Cys51AlafsTer27
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.147_150dupGCTC
  hgvsp: ENSP00000429671.1:p.Cys51AlafsTer27
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.147_150dupGCTC
  hgvsp: ENSP00000430650.1:p.Cys51AlafsTer27
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.147_150dupGCTC
  hgvsp: ENSP00000477126.1:p.Cys51AlafsTer27
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.147_150dupGCTC
  hgvsp: ENSP00000430552.1:p.Cys51AlafsTer?
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1159_1162dupGCTC
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys51AlafsTer27
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-193735-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193735
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193735
    reference: chr 8
allele count: 3
allele frequency: 2.472595400972554e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.48C>A
  hgvsp: ENSP00000476799.1:p.Cys16Ter
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.153C>A
  hgvsp: ENSP00000381613.1:p.Cys51Ter
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.153C>A
  hgvsp: ENSP00000430552.1:p.Cys51Ter
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.153C>A
  hgvsp: ENSP00000430650.1:p.Cys51Ter
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1165C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.153C>A
  hgvsp: ENSP00000477126.1:p.Cys51Ter
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.153C>A
  hgvsp: ENSP00000310033.4:p.Cys51Ter
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.414C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.153C>A
  hgvsp: ENSP00000429671.1:p.Cys51Ter
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+722C>A
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys51Ter
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

8-193739-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193739
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193739
    reference: chr 8
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.157T>C
  hgvsp: ENSP00000429671.1:p.Ser53Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.157T>C
  hgvsp: ENSP00000430552.1:p.Ser53Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.418T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1169T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.157T>C
  hgvsp: ENSP00000430650.1:p.Ser53Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.52T>C
  hgvsp: ENSP00000476799.1:p.Ser18Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.157T>C
  hgvsp: ENSP00000381613.1:p.Ser53Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.157T>C
  hgvsp: ENSP00000310033.4:p.Ser53Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+726T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.157T>C
  hgvsp: ENSP00000477126.1:p.Ser53Pro
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser53Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

8-193746-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193746
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193746
    reference: chr 8
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.164T>C
  hgvsp: ENSP00000429671.1:p.Val55Ala
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.425T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.164T>C
  hgvsp: ENSP00000430650.1:p.Val55Ala
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.164T>C
  hgvsp: ENSP00000477126.1:p.Val55Ala
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.59T>C
  hgvsp: ENSP00000476799.1:p.Val20Ala
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+733T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.164T>C
  hgvsp: ENSP00000310033.4:p.Val55Ala
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1176T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.164T>C
  hgvsp: ENSP00000381613.1:p.Val55Ala
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.164T>C
  hgvsp: ENSP00000430552.1:p.Val55Ala
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val55Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/8-193754-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193754
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193754
    reference: chr 8
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.172C>A
  hgvsp: ENSP00000477126.1:p.Gln58Lys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.172C>A
  hgvsp: ENSP00000310033.4:p.Gln58Lys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.433C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+741C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.172C>A
  hgvsp: ENSP00000381613.1:p.Gln58Lys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.172C>A
  hgvsp: ENSP00000430650.1:p.Gln58Lys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.67C>A
  hgvsp: ENSP00000476799.1:p.Gln23Lys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.172C>A
  hgvsp: ENSP00000429671.1:p.Gln58Lys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.172C>A
  hgvsp: ENSP00000430552.1:p.Gln58Lys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1184C>A
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln58Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-193755-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193755
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193755
    reference: chr 8
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.173A>T
  hgvsp: ENSP00000429671.1:p.Gln58Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.173A>T
  hgvsp: ENSP00000430650.1:p.Gln58Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.173A>T
  hgvsp: ENSP00000430552.1:p.Gln58Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.173A>T
  hgvsp: ENSP00000381613.1:p.Gln58Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1185A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+742A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.173A>T
  hgvsp: ENSP00000310033.4:p.Gln58Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.173A>T
  hgvsp: ENSP00000477126.1:p.Gln58Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.68A>T
  hgvsp: ENSP00000476799.1:p.Gln23Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.434A>T
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln58Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-193756-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193756
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193756
    reference: chr 8
allele count: 95
allele frequency: 7.829369200085711e-4
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.174A>G
  hgvsp: ENST00000521145.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.174A>G
  hgvsp: ENST00000518414.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.174A>G
  hgvsp: ENST00000522866.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.174A>G
  hgvsp: ENST00000398612.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.174A>G
  hgvsp: ENST00000523162.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.174A>G
  hgvsp: ENST00000308811.4:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.69A>G
  hgvsp: ENST00000518320.2:c.69A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.435A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1186A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+743A>G
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13598
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln58Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

8-193762-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193762
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193762
    reference: chr 8
allele count: 3
allele frequency: 2.472432378974435e-5
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.75G>C
  hgvsp: ENSP00000476799.1:p.Glu25Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.180G>C
  hgvsp: ENSP00000430650.1:p.Glu60Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.441G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.180G>C
  hgvsp: ENSP00000430552.1:p.Glu60Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.180G>C
  hgvsp: ENSP00000381613.1:p.Glu60Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1192G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.180G>C
  hgvsp: ENSP00000429671.1:p.Glu60Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.180G>C
  hgvsp: ENSP00000310033.4:p.Glu60Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.180G>C
  hgvsp: ENSP00000477126.1:p.Glu60Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+749G>C
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu60Asp
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-193763-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193763
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193763
    reference: chr 8
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+750C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.181C>G
  hgvsp: ENSP00000429671.1:p.Gln61Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.181C>G
  hgvsp: ENSP00000310033.4:p.Gln61Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1193C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.442C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.181C>G
  hgvsp: ENSP00000430650.1:p.Gln61Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.181C>G
  hgvsp: ENSP00000477126.1:p.Gln61Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.181C>G
  hgvsp: ENSP00000381613.1:p.Gln61Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.76C>G
  hgvsp: ENSP00000476799.1:p.Gln26Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.181C>G
  hgvsp: ENSP00000430552.1:p.Gln61Glu
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln61Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

8-193778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193778
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193778
    reference: chr 8
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.196T>C
  hgvsp: ENSP00000381613.1:p.Ser66Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+765T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.196T>C
  hgvsp: ENSP00000430552.1:p.Ser66Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.457T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.196T>C
  hgvsp: ENSP00000430650.1:p.Ser66Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.91T>C
  hgvsp: ENSP00000476799.1:p.Ser31Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.196T>C
  hgvsp: ENSP00000477126.1:p.Ser66Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.196T>C
  hgvsp: ENSP00000429671.1:p.Ser66Pro
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1208T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.196T>C
  hgvsp: ENSP00000310033.4:p.Ser66Pro
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser66Pro
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

8-193784-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193784
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193784
    reference: chr 8
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1214C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.202C>G
  hgvsp: ENSP00000430650.1:p.Gln68Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.97C>G
  hgvsp: ENSP00000476799.1:p.Gln33Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.202C>G
  hgvsp: ENSP00000310033.4:p.Gln68Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.202C>G
  hgvsp: ENSP00000381613.1:p.Gln68Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.202C>G
  hgvsp: ENSP00000477126.1:p.Gln68Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+771C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.202C>G
  hgvsp: ENSP00000430552.1:p.Gln68Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.202C>G
  hgvsp: ENSP00000429671.1:p.Gln68Glu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.463C>G
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8413
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln68Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

8-193788-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193788
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193788
    reference: chr 8
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.206G>T
  hgvsp: ENSP00000310033.4:p.Arg69Ile
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+775G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.206G>T
  hgvsp: ENSP00000381613.1:p.Arg69Ile
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.101G>T
  hgvsp: ENSP00000476799.1:p.Arg34Ile
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.206G>T
  hgvsp: ENSP00000430650.1:p.Arg69Ile
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.206G>T
  hgvsp: ENSP00000430552.1:p.Arg69Ile
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.206G>T
  hgvsp: ENSP00000429671.1:p.Arg69Ile
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.206G>T
  hgvsp: ENSP00000477126.1:p.Arg69Ile
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.467G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1218G>T
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg69Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

8-193791-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193791
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193791
    reference: chr 8
allele count: 3
allele frequency: 2.475002475002475e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1221T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.470T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.209T>C
  hgvsp: ENSP00000429671.1:p.Ile70Thr
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.209T>C
  hgvsp: ENSP00000430552.1:p.Ile70Thr
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.209T>C
  hgvsp: ENSP00000430650.1:p.Ile70Thr
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.209T>C
  hgvsp: ENSP00000381613.1:p.Ile70Thr
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.209T>C
  hgvsp: ENSP00000310033.4:p.Ile70Thr
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+778T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.104T>C
  hgvsp: ENSP00000476799.1:p.Ile35Thr
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.209T>C
  hgvsp: ENSP00000477126.1:p.Ile70Thr
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile70Thr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

8-193798-ACTGCAAGGTGAGCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193798
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193784
    reference: chr 8
allele count: 2
allele frequency: 1.651254953764861e-5
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsp: ENSP00000430650.1:p.Gln74Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 9.25e1
  variant carriers: 0
hgvs: c.219_223+9delGCAAGGTGAGCTCT
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: ACTGCAAGGTGAGCT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

8-193800-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193800
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193800
    reference: chr 8
allele count: 2
allele frequency: 1.651636772041093e-5
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+787T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.218T>A
  hgvsp: ENSP00000430650.1:p.Leu73Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.218T>A
  hgvsp: ENSP00000429671.1:p.Leu73Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.218T>A
  hgvsp: ENSP00000477126.1:p.Leu73Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.218T>A
  hgvsp: ENSP00000310033.4:p.Leu73Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1230T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.113T>A
  hgvsp: ENSP00000476799.1:p.Leu38Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.218T>A
  hgvsp: ENSP00000430552.1:p.Leu73Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.218T>A
  hgvsp: ENSP00000381613.1:p.Leu73Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.479T>A
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu73Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-193800-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193800
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193800
    reference: chr 8
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.218T>G
  hgvsp: ENSP00000477126.1:p.Leu73Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1230T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.218T>G
  hgvsp: ENSP00000310033.4:p.Leu73Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.113T>G
  hgvsp: ENSP00000476799.1:p.Leu38Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+787T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.218T>G
  hgvsp: ENSP00000381613.1:p.Leu73Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.218T>G
  hgvsp: ENSP00000430650.1:p.Leu73Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.218T>G
  hgvsp: ENSP00000429671.1:p.Leu73Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.218T>G
  hgvsp: ENSP00000430552.1:p.Leu73Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.479T>G
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu73Arg
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

8-193801-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193801
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193801
    reference: chr 8
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430552
  ensembl transcript: ENST00000518414
  gene symbol: ZNF596
  hgvsc: ENST00000518414.1:c.219G>T
  hgvsp: ENST00000518414.1:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.219G>T
  hgvsp: ENST00000308811.4:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.219G>T
  hgvsp: ENST00000522866.1:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.219G>T
  hgvsp: ENST00000521145.1:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1231G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.480G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.219G>T
  hgvsp: ENST00000523162.1:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.219G>T
  hgvsp: ENST00000398612.1:c.219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+788G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.114G>T
  hgvsp: ENST00000518320.2:c.114G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10898
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu73Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

8-193807-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193807
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193807
    reference: chr 8
allele count: 2
allele frequency: 1.653439153439154e-5
allele num: 120960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+2T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+2T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+2T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+2T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+2T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+794T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1237T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+2T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.225T>C
  hgvsp: ENST00000523162.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9046
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5135
  bin: 7.75e1
  variant carriers: 0
hgvs: c.223+2T>C
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

8-193813-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193813
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193813
    reference: chr 8
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1243C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+800C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.231C>G
  hgvsp: ENST00000523162.1:c.231C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+8C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+8C>G
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
hgvs: c.223+8C>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

8-193820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193820
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193820
    reference: chr 8
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1250G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+15G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*4G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+15G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+15G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+15G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+15G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+807G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+15G>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-193831-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193831
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193831
    reference: chr 8
allele count: 1
allele frequency: 8.320436656515735e-6
allele num: 120186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+26A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+26A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+26A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1261A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+818A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+26A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+26A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+26A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5012
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

8-193832-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193832
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193832
    reference: chr 8
allele count: 1
allele frequency: 8.321821480285606e-6
allele num: 120166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+27T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1262T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+27T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+819T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+27T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+27T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+27T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+27T>C
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12429
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10965
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

8-193832-TAGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193832
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193829
    reference: chr 8
allele count: 123
allele frequency: 1.023584042075129e-3
allele num: 120166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+36_223+38delGAG
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+36_223+38delGAG
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+36_223+38delGAG
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+36_223+38delGAG
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+36_118+38delGAG
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*25_*27delGAG
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+828_139+830delGAG
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1271_1273delGAG
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+36_484+38delGAG
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18651
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 12429
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: TAGG
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

8-193847-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193847
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193847
    reference: chr 8
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+42C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*31C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+42C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1277C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+42C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+42C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+42C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+42C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+834C>G
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15987
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

8-193849-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193849
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193849
    reference: chr 8
allele count: 1
allele frequency: 8.353241893178742e-6
allele num: 119714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+44T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+44T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+44T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+44T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+836T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*33T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1279T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+44T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+44T>C
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10850
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-193853-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193853
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193853
    reference: chr 8
allele count: 6
allele frequency: 5.03127777684606e-5
allele num: 119254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+48C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+48C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+840C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+48C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+48C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1283C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+48C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+48C>T
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10835
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

8-193855-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193855
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193855
    reference: chr 8
allele count: 2
allele frequency: 1.677008217340265e-5
allele num: 119260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1285G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+842G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+50G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+50G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+50G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*39G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+50G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+50G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+50G>T
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

8-193859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193859
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193859
    reference: chr 8
allele count: 1
allele frequency: 8.396446623788812e-6
allele num: 119098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1289G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+54G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+54G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*42+1G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+54G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+54G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+54G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+846G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+54G>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
hgvs: c.*42+1G>A
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-193861-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193861
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193861
    reference: chr 8
allele count: 1
allele frequency: 8.431561019207096e-6
allele num: 118602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+848G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+56G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1291G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+56G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+56G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*42+3G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+56G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+56G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+56G>C
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
hgvs: c.*42+3G>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

8-193863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193863
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 193863
    reference: chr 8
allele count: 150
allele frequency: 1.267170155608495e-3
allele num: 118374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1293G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.223+58G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*42+5G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.118+58G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.484+58G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.223+58G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.223+58G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.223+58G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.139+850G>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
hgvs: c.*42+5G>A
num of homozygotes: 2
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-194568-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194568
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194568
    reference: chr 8
allele count: 1
allele frequency: 9.181387491277682e-6
allele num: 108916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.119-51T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.224-51T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.224-51T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.224-51T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.224-51T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.1998T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*43-51T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.485-51T>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-629T>A
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11477
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

8-194577-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194577
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194577
    reference: chr 8
allele count: 1
allele frequency: 9.156335268372187e-6
allele num: 109214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2007C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-620C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.119-42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.224-42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.224-42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.224-42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*43-42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.224-42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.485-42C>T
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum

8-194578-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194578
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194578
    reference: chr 8
allele count: 1
allele frequency: 9.14310792524595e-6
allele num: 109372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2008C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.224-41C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.119-41C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.224-41C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*43-41C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.224-41C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.485-41C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.224-41C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-619C>G
  variant of: http://identifiers.org/hgnc/27268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11065
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4383
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31541
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7228
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.602954422626554e-5
allele num: 55510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.283509e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.225e1

GenotypeQuality
all individuals: 478
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25520
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 815
bin: 9.75e1
variant carriers: 304

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 206
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1094
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 520
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21552
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 450
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 5
allele frequency: 5.677946854417443e-4
allele num: 8806
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.391363328057879e-4
allele num: 8846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 2.224694104560623e-3
allele num: 5394
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.459016393442623e-4
allele num: 12200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 291
allele frequency: 5.761919847932837e-3
allele num: 50504
num of homozygotes: 2

Other
type: Population
allele count: 2
allele frequency: 2.849002849002849e-3
allele num: 702
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.5600624024961e-4
allele num: 6410
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 1.091642e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.356e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 413
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25850
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 508
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 7.961783439490446e-4
allele num: 8792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5378
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.57035175879397e-4
allele num: 6368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12194
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.449e1

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.08468e6

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30800
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 404
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.135200922406798e-5
allele num: 46834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.697792869269949e-4
allele num: 5890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.6994e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

MQ
type: SiteQuality
SIO_000300: 5.685e1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

QD
type: SiteQuality
SIO_000300: 1.272e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 781
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34490
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 392
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.316101537891421e-5
allele num: 43176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.013e1

MQ
type: SiteQuality
SIO_000300: 6.107e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

DP
type: SiteQuality
SIO_000300: 8.78863e5

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2476
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35492
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3110
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5152
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4682
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.894e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.56465e5

QD
type: SiteQuality
SIO_000300: 5.44e0

GenotypeQuality
all individuals: 5527
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3226
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 717
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4124
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36560
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.763688760806917e-4
allele num: 6940
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.46956e5

QD
type: SiteQuality
SIO_000300: 1.388e1

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

GenotypeQuality
all individuals: 707
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6101
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37514
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5560
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36336
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.601537475976938e-4
allele num: 6244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8698
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

DP
type: SiteQuality
SIO_000300: 7.44127e5

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

FS
type: SiteQuality
SIO_000300: 6.454e0

QD
type: SiteQuality
SIO_000300: 1.245e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 500
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.258178026847387e-5
allele num: 30692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.759e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 6.60096e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: -3.003e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

GenotypeQuality
all individuals: 172
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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: 3

GenotypeQuality
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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: 111
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GenotypeQuality
all individuals: 163
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.427619682116684e-4
allele num: 21014
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

DP
type: SiteQuality
SIO_000300: 5.35526e5

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 3.212e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.28e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.27e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
all individuals: 166
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1043
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 629
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variant carriers: 1

GenotypeQuality
all individuals: 25169
bin: 2.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 7

GenotypeQuality
all individuals: 82
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variant carriers: 16

GenotypeQuality
all individuals: 63
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variant carriers: 6

GenotypeQuality
all individuals: 2250
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variant carriers: 2

GenotypeQuality
all individuals: 135
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variant carriers: 2

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 527
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variant carriers: 2

GenotypeQuality
all individuals: 18643
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 741
bin: 9.75e1
variant carriers: 255

GenotypeQuality
all individuals: 2014
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 18

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1996
num of homozygotes: 0

African
type: Population
allele count: 64
allele frequency: 1.336116910229645e-2
allele num: 4790
num of homozygotes: 1

Latino
type: Population
allele count: 33
allele frequency: 1.176890156918688e-2
allele num: 2804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 5.971337579617835e-3
allele num: 2512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 115
allele frequency: 5.6278751101106e-3
allele num: 20434
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 1.373626373626374e-2
allele num: 364
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 1.430322844299142e-3
allele num: 4894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

VQSLOD
type: SiteQuality
SIO_000300: 6.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 5.26787e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.466e1

GenotypeQuality
all individuals: 82
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1043
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 166
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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
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20434
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.002004008016032e-3
allele num: 1996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.26787e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.466e1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 762
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5169
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
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variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1620
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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
all individuals: 1341
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GenotypeQuality
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GenotypeQuality
all individuals: 1933
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 142
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2008
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.499250374812594e-3
allele num: 4002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3800
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 7.15307582260372e-4
allele num: 1398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15944
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.91e-2

DP
type: SiteQuality
SIO_000300: 4.78363e5

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 3.882e0

QD
type: SiteQuality
SIO_000300: 1.435e1

GenotypeQuality
all individuals: 3646
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1299
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 4.73872e5

QD
type: SiteQuality
SIO_000300: 1.334e1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 22

GenotypeQuality
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bin: 2.75e1
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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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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 3

African
type: Population
allele count: 18
allele frequency: 5.036373810856184e-3
allele num: 3574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13742
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.271e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.13e-2

DP
type: SiteQuality
SIO_000300: 4.41079e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 8.75e1
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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
all individuals: 308
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1801
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1172
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12422
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

ClippingRankSum
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SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.24085e5

VQSLOD
type: SiteQuality
SIO_000300: -1.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.24e-2

QD
type: SiteQuality
SIO_000300: 1.144e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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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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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1520
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12384
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1164
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
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SIO_000300: 4.23806e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.159e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1164
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.72e-2

QD
type: SiteQuality
SIO_000300: 1.04e1

VQSLOD
type: SiteQuality
SIO_000300: -5.632e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

DP
type: SiteQuality
SIO_000300: 4.23806e5

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3232
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.863e1

QD
type: SiteQuality
SIO_000300: 1.29e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.81e-2

DP
type: SiteQuality
SIO_000300: 4.20274e5

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.385041086701326e-5
allele num: 11926
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.863e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

DP
type: SiteQuality
SIO_000300: 4.20274e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.81e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.29e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.511820970943873e-5
allele num: 66492
num of homozygotes: 0

African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.304e1

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

South Asian
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allele count: 0
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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
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.007880647295915e-5
allele num: 66492
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.462004500605851e-4
allele num: 11554
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
type: SiteQuality
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FS
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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African
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allele frequency: 3.844675124951942e-4
allele num: 10404
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East Asian
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allele frequency: 0.0e0
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Other
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European (Finnish)
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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QD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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Other
type: Population
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.167509559639817e-5
allele num: 16214
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

QD
type: SiteQuality
SIO_000300: 1.572e1

VQSLOD
type: SiteQuality
SIO_000300: -3.086e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

DP
type: SiteQuality
SIO_000300: 2.03789e6

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 2.038765e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.324e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

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: 25

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 25
allele frequency: 2.402460119162022e-3
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.048989e6

QD
type: SiteQuality
SIO_000300: 1.325e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

FS
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.840490797546012e-4
allele num: 16300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.008893161879582e-5
allele num: 66568
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.595155709342561e-4
allele num: 11560
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.185e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.2e0

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.048621e6

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 4
allele frequency: 6.007810153199159e-5
allele num: 66580
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.251e1

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

FS
type: SiteQuality
SIO_000300: 5.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

DP
type: SiteQuality
SIO_000300: 2.048811e6

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

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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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: 16326
num of homozygotes: 0

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

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

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

African
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allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.023e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Finnish)
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: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

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

Other
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: 11560
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.902e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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SIO_000300: 3.702e0

BaseQRankSum
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SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 2.050629e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.36e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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Other
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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Other
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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DP
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FS
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16450
num of homozygotes: 0

European (Non-Finnish)
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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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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East Asian
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
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allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

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

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

DP
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ClippingRankSum
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QD
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MQ
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SIO_000300: 6.042e1

MQRankSum
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SIO_000300: 2.67e-1

FS
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SIO_000300: 2.066e0

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: 1.22e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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allele num: 8654
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Other
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

European (Finnish)
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num of homozygotes: 0

Other
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num of homozygotes: 0

East 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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Latino
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allele frequency: 0.0e0
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South Asian
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MQ
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SIO_000300: 5.937e1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele num: 11548
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South Asian
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East Asian
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MQ
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BaseQRankSum
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DP
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QD
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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 count: 24
allele frequency: 3.598093010704327e-4
allele num: 66702
num of homozygotes: 0

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

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

South Asian
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allele count: 71
allele frequency: 4.300423985463355e-3
allele num: 16510
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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DP
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InbreedingCoeff
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16510
num of homozygotes: 0

Other
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
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DP
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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East Asian
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allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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DP
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ReadPosRankSum
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FS
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SIO_000300: 9.5e-1

MQRankSum
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SIO_000300: 1.1e0

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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MQ
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SIO_000300: 5.98e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.924557351809084e-4
allele num: 10392
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 count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
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

MQRankSum
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VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
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DP
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QD
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InbreedingCoeff
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ClippingRankSum
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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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GenotypeQuality
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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 frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.00336376741951e-5
allele num: 66592
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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MQ
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QD
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DP
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16484
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003814844852963e-5
allele num: 66582
num of homozygotes: 0

Other
type: Population
allele count: 0
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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MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.468e1

DP
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SIO_000300: 2.043617e6

BaseQRankSum
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SIO_000300: 2.88e0

FS
type: SiteQuality
SIO_000300: 4.413e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

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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GenotypeQuality
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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: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 11506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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DP
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QD
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MQRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
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Latino
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Other
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European (Finnish)
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.700191404210893e-5
allele num: 11494
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East Asian
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
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European (Finnish)
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Other
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MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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ClippingRankSum
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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East Asian
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European (Non-Finnish)
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Other
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
type: SiteQuality
SIO_000300: 2.033232e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

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

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 10873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3985
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 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: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509479531457553e-5
allele num: 66248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.112e0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.09e0

QD
type: SiteQuality
SIO_000300: 1.473e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.11e-1

DP
type: SiteQuality
SIO_000300: 2.022607e6

GenotypeQuality
all individuals: 7891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21074
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65978
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.315e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

DP
type: SiteQuality
SIO_000300: 1.99357e6

QD
type: SiteQuality
SIO_000300: 1.628e1

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 2.25e1
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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bin: 7.25e1
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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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4995
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variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.01e0

DP
type: SiteQuality
SIO_000300: 1.989717e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.715e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.87e1

MQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20864
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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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10965
bin: 9.75e1
variant carriers: 123

GenotypeQuality
all individuals: 3581
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4995
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variant carriers: 0

GenotypeQuality
all individuals: 7869
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.5056967572305e-4
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 118
allele frequency: 1.142746465233391e-2
allele num: 10326
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515886490419597e-5
allele num: 65968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.989717e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.01e0

MQ
type: SiteQuality
SIO_000300: 5.715e1

QD
type: SiteQuality
SIO_000300: 1.87e1

GenotypeQuality
all individuals: 3352
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 434
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variant carriers: 0

GenotypeQuality
all individuals: 3831
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7111
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variant carriers: 0

GenotypeQuality
all individuals: 1966
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variant carriers: 0

GenotypeQuality
all individuals: 980
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variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10849
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variant carriers: 1

GenotypeQuality
all individuals: 1855
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.855e0

QD
type: SiteQuality
SIO_000300: 1.402e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 1.932642e6

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

GenotypeQuality
all individuals: 1040
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
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variant carriers: 0

GenotypeQuality
all individuals: 1911
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variant carriers: 0

GenotypeQuality
all individuals: 7003
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
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variant carriers: 0

GenotypeQuality
all individuals: 1729
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variant carriers: 0

GenotypeQuality
all individuals: 132
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 979
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.093845216331505e-5
allele num: 16410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65710
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.072e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 1.923322e6

QD
type: SiteQuality
SIO_000300: 1.456e1

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
all individuals: 1404
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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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GenotypeQuality
all individuals: 159
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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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.608034083992696e-4
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65436
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.56e-1

DP
type: SiteQuality
SIO_000300: 1.902199e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.314e1

FS
type: SiteQuality
SIO_000300: 4.669e0

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.825e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4499
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65470
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.767096660187312e-4
allele num: 11318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

DP
type: SiteQuality
SIO_000300: 1.893679e6

GenotypeQuality
all individuals: 6066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10772
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variant carriers: 0

GenotypeQuality
all individuals: 1898
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variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 274
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variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1702
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10830
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.841732979664014e-5
allele num: 11310
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 1.879387e6

FS
type: SiteQuality
SIO_000300: 2.083e0

VQSLOD
type: SiteQuality
SIO_000300: -2.231e0

QD
type: SiteQuality
SIO_000300: 3.323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.061e0

GenotypeQuality
all individuals: 392
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3718
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10825
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 224
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3584
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2536
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536051119781266e-5
allele num: 65102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.271e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 1.875408e6

VQSLOD
type: SiteQuality
SIO_000300: -6.17e-2

GenotypeQuality
all individuals: 4090
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1775
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10946
bin: 9.75e1
variant carriers: 146

GenotypeQuality
all individuals: 3717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3039
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.784758165268606e-4
allele num: 11206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 144
allele frequency: 1.739550616090843e-2
allele num: 8278
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538508877196221e-5
allele num: 64998
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.231072263941894e-4
allele num: 16246
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

FS
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.048e0

QD
type: SiteQuality
SIO_000300: 1.406e1

DP
type: SiteQuality
SIO_000300: 1.872969e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

GenotypeQuality
all individuals: 205
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7928
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.688675740484312e-5
allele num: 59218
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.834e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.627e1

DP
type: SiteQuality
SIO_000300: 1.556662e6

VQSLOD
type: SiteQuality
SIO_000300: 3.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

GenotypeQuality
all individuals: 4957
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13387
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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: 642
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3722
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.682821755519655e-5
allele num: 59424
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 1.593295e6

FS
type: SiteQuality
SIO_000300: 2.648e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.515e0

VQSLOD
type: SiteQuality
SIO_000300: -3.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 3.297e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

GenotypeQuality
all individuals: 2974
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4921
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 7.25e1
variant carriers: 0