16-3027039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027039
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027039
    reference: chr 16
allele count: 127
allele frequency: 2.571578989997165e-3
allele num: 49386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-214C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-7C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31519
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 1.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.11-7C>T
num of homozygotes: 2
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

16-3027040-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027040
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027038
    reference: chr 16
allele count: 1
allele frequency: 2.010616052758565e-5
allele num: 49736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-10_11-9delCT
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-10_11-9delCT
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-10_-17-9delCT
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-10_11-9delCT
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-217_11-216delCT
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-10_-17-9delCT
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-10_11-9delCT
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-10_-17-9delCT
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-10_11-9delCT
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-10_11-9delCT
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-10_11-9delCT
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-10_-17-9delCT
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: CAG
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/16-3027045-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027045
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027044
    reference: chr 16
allele count: 1
allele frequency: 1.946055345814035e-5
allele num: 51386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-14delG
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-14delG
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-14delG
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-14delG
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-14delG
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-14delG
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-14delG
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-221delG
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-14delG
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-14delG
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-14delG
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-14delG
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12547
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: AC
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

16-3027053-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027053
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027053
    reference: chr 16
allele count: 1
allele frequency: 1.865254047601283e-5
allele num: 53612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-21A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-21A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-228A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-21A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-21A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-21A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-21A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-21A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-21A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-21A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-21A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-21A>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-3027055-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027055
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027055
    reference: chr 16
allele count: 1
allele frequency: 1.864975755315181e-5
allele num: 53620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-23T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-23T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-23T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-23T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-23T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-230T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-23T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-23T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-23T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-23T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-23T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-23T>G
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8799
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

16-3027062-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027062
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027062
    reference: chr 16
allele count: 1
allele frequency: 1.830831197363603e-5
allele num: 54620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-30C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-30C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-30C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-30C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-30C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-30C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-30C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-30C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-30C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-30C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-30C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-237C>G
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

16-3027069-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027069
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027069
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 54712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-37A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-244A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-37A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-37A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-37A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-37A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-37A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-37A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-37A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-37A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-37A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-37A>G
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28381
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

16-3027070-G-GTCCACTCTGATAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027070
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027083
    reference: chr 16
allele count: 1
allele frequency: 1.828153564899452e-5
allele num: 54700
alternate allele: GTCCACTCTGATAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11222
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

16-3027077-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027077
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027077
    reference: chr 16
allele count: 2
allele frequency: 3.70919881305638e-5
allele num: 53920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-45G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-45G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-45G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-45G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-45G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-45G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-45G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-45G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-45G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-45G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-252G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-45G>C
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

16-3027079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027079
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027079
    reference: chr 16
allele count: 3
allele frequency: 5.530565592507927e-5
allele num: 54244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-47C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-47C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-47C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-47C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-47C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-47C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-47C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-47C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-47C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-47C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-254C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-47C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12688
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

16-3027081-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027081
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027081
    reference: chr 16
allele count: 5
allele frequency: 9.184760645137588e-5
allele num: 54438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-49A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-49A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-49A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-49A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-49A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-49A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-49A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-49A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-49A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-49A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-256A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-49A>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

16-3027084-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027084
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027084
    reference: chr 16
allele count: 8
allele frequency: 1.47612369916599e-4
allele num: 54196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-52G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-52G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-52G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-52G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-52G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-52G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-52G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-52G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-52G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-52G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-52G>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-259G>C
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13182
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

16-3027089-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027089
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027089
    reference: chr 16
allele count: 6
allele frequency: 1.116445238361058e-4
allele num: 53742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-57C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-57C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-57C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-57C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-57C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-57C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-57C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-264C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-57C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-57C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-57C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-57C>A
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13824
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

16-3027090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027090
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027090
    reference: chr 16
allele count: 1
allele frequency: 1.860672819291456e-5
allele num: 53744
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-58C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-58C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-58C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-58C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-58C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-58C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-58C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-58C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-265C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-58C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-58C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-58C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26980
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-3027093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027093
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027093
    reference: chr 16
allele count: 1
allele frequency: 1.874203463528001e-5
allele num: 53356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-61G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-61G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-61G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-61G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-61G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-268G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-61G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-61G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-61G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-61G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-61G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-61G>A
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

16-3027094-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027094
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027094
    reference: chr 16
allele count: 1
allele frequency: 1.884872017190033e-5
allele num: 53054
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-62A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-62A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-62A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-62A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-62A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-62A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-269A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-62A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-62A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-62A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-62A>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-62A>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

16-3027109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027109
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027109
    reference: chr 16
allele count: 1
allele frequency: 1.93371234095216e-5
allele num: 51714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-77C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-77C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-77C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-77C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-284C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-77C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-77C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-77C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-77C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-77C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-77C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-77C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

16-3027117-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3027117
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3027117
    reference: chr 16
allele count: 1
allele frequency: 2.000240028803456e-5
allele num: 49994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.11-85T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-17-85T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.11-292T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-17-85T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.11-85T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.11-85T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.11-85T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000371675
  ensembl transcript: ENST00000382240
  gene symbol: PKMYT1
  hgvsc: ENST00000382240.5:c.-17-85T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.11-85T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.11-85T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.11-85T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-17-85T>C
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

16-3029599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029599
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029599
    reference: chr 16
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.10+50C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+210C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.487C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+210C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.10+50C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.10+50C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.10+50C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.448C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.10+50C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.10+50C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.10+50C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+218C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.10+50C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/16-3029600-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029600
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029600
    reference: chr 16
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.10+49G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.10+49G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.10+49G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+209G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.447G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.10+49G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.486G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.10+49G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+209G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+217G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.10+49G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.10+49G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.10+49G>T
  variant of: http://identifiers.org/hgnc/29650
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

16-3029603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029603
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029603
    reference: chr 16
allele count: 1
allele frequency: 8.314763694415805e-6
allele num: 120268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.10+46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+206C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.10+46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.10+46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+214C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.10+46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.10+46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.444C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.10+46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.10+46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.483C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.10+46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+206C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

16-3029610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029610
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029610
    reference: chr 16
allele count: 2
allele frequency: 1.662897432486364e-5
allele num: 120272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+199A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.10+39A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.10+39A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.10+39A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.10+39A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.10+39A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.10+39A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.476A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+207A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.437A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.10+39A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.10+39A>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+199A>G
  variant of: http://identifiers.org/hgnc/29650
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

16-3029622-TCCCACCGTCCCTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029622
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029609
    reference: chr 16
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  variant of: http://identifiers.org/hgnc/29650
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TCCCACCGTCCCTG
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-3029631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029631
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029631
    reference: chr 16
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+178G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.10+18G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.10+18G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.10+18G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+186G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.10+18G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+178G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.10+18G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.455G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.416G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.10+18G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.10+18G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.10+18G>A
  variant of: http://identifiers.org/hgnc/29650
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-3029632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029632
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029632
    reference: chr 16
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.10+17G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.415G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.10+17G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.10+17G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.10+17G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+177G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+185G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.10+17G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+177G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.10+17G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.454G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.10+17G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.10+17G>A
  variant of: http://identifiers.org/hgnc/29650
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-3029641-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029641
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029641
    reference: chr 16
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.10+8G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.10+8G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+176G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.10+8G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.10+8G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.406G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.10+8G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+168G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.10+8G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.10+8G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+168G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.10+8G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.445G>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.10+8G>T
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

16-3029641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029641
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029641
    reference: chr 16
allele count: 4
allele frequency: 3.324965503482902e-5
allele num: 120302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.10+8G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+168G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.10+8G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+168G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.10+8G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.10+8G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.10+8G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+176G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.10+8G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.10+8G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.10+8G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.445G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.406G>A
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.10+8G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

16-3029642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029642
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029642
    reference: chr 16
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.10+7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.10+7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.10+7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.10+7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.10+7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.405C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+175C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.10+7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.444C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.10+7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.10+7C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+167C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+167C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.10+7C>T
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

16-3029652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029652
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029652
    reference: chr 16
allele count: 2
allele frequency: 1.663422991832593e-5
allele num: 120234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.434G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.7G>A
  hgvsp: ENSP00000460598.1:p.Glu3Lys
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.395G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.7G>A
  hgvsp: ENSP00000392855.2:p.Glu3Lys
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.7G>A
  hgvsp: ENSP00000461330.1:p.Glu3Lys
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.7G>A
  hgvsp: ENSP00000458842.1:p.Glu3Lys
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+165G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.7G>A
  hgvsp: ENSP00000262300.8:p.Glu3Lys
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+157G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.7G>A
  hgvsp: ENSP00000461628.1:p.Glu3Lys
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.7G>A
  hgvsp: ENSP00000460868.1:p.Glu3Lys
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.7G>A
  hgvsp: ENSP00000397739.2:p.Glu3Lys
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+157G>A
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu3Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

16-3029656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029656
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029656
    reference: chr 16
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.3G>A
  hgvsp: ENSP00000397739.2:p.Met1?
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.430G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+161G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.3G>A
  hgvsp: ENSP00000458842.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.3G>A
  hgvsp: ENSP00000392855.2:p.Met1?
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+153G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.3G>A
  hgvsp: ENSP00000460598.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.3G>A
  hgvsp: ENSP00000460868.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+153G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.3G>A
  hgvsp: ENSP00000262300.8:p.Met1?
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.3G>A
  hgvsp: ENSP00000461330.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.391G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.3G>A
  hgvsp: ENSP00000461628.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

16-3029669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029669
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029669
    reference: chr 16
allele count: 1
allele frequency: 8.325701440346349e-6
allele num: 120110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-11C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+140C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.378C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-11C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-11C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+140C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+148C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.417C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/16-3029671-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029671
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029671
    reference: chr 16
allele count: 1
allele frequency: 8.328613785521537e-6
allele num: 120068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-13G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.415G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+138G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-13G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.376G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-13G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+138G>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+146G>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/16-3029673-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029673
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029673
    reference: chr 16
allele count: 1
allele frequency: 8.327642777435419e-6
allele num: 120082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+136T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-15T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-15T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-15T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-15T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-15T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+144T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-15T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.413T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-15T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.374T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-15T>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+136T>G
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

16-3029673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029673
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029673
    reference: chr 16
allele count: 1
allele frequency: 8.327642777435419e-6
allele num: 120082
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-15T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.374T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.413T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-15T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-15T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+136T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+136T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+144T>C
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12526
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

16-3029676-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029676
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029676
    reference: chr 16
allele count: 3
allele frequency: 2.498667377398721e-5
allele num: 120064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-18T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.410T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-18T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-18T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.371T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-18T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-18T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-18T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+133T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-18T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+141T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-18T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+133T>C
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

16-3029679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029679
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029679
    reference: chr 16
allele count: 2
allele frequency: 1.666333399986669e-5
allele num: 120024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.368G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-21G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+130G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-21G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-21G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.407G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+138G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+130G>A
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14489
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

16-3029681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029681
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029681
    reference: chr 16
allele count: 2
allele frequency: 1.666944490748458e-5
allele num: 119980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-23G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+128G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.366G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+136G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-23G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+128G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.405G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-23G>A
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

16-3029682-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029682
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029682
    reference: chr 16
allele count: 1
allele frequency: 8.334444592612349e-6
allele num: 119984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-24T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-24T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-24T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+135T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-24T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.404T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.365T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+127T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-24T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-24T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-24T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-24T>C
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+127T>C
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

16-3029683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029683
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029683
    reference: chr 16
allele count: 3
allele frequency: 2.501042100875365e-5
allele num: 119950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.403C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.364C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-25C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-25C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-25C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+126C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+126C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+134C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff

16-3029683-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029683
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029683
    reference: chr 16
allele count: 1
allele frequency: 8.336807002917883e-6
allele num: 119950
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-25C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-25C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-25C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+126C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.364C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+126C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-25C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-25C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-25C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-25C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.403C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+134C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-25C>G
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

16-3029690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029690
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029690
    reference: chr 16
allele count: 1
allele frequency: 8.344877079960612e-6
allele num: 119834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.357C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-32C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-32C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+127C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-32C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-32C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+119C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-32C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+119C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-32C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-32C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.396C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-32C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

16-3029690-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029690
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029690
    reference: chr 16
allele count: 1
allele frequency: 8.344877079960612e-6
allele num: 119834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-32C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+119C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-32C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+127C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-32C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-32C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+119C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-32C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-32C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-32C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-32C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.396C>G
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.357C>G
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

16-3029692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029692
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029692
    reference: chr 16
allele count: 2
allele frequency: 1.669755714738934e-5
allele num: 119778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.394G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.355G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-34G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+125G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-34G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-34G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+117G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+117G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

16-3029692-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029692
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029691
    reference: chr 16
allele count: 9
allele frequency: 7.513900716325202e-5
allele num: 119778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+124delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-35delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-35delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-35delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-35delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+116delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-35delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-35delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+116delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-35delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-35delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.393delC
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.354delC
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13423
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: CG
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

16-3029693-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029693
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029693
    reference: chr 16
allele count: 3
allele frequency: 2.507438734913577e-5
allele num: 119644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+116C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-35C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-35C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+116C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-35C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-35C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-35C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+124C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-35C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-35C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.393C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.354C>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-35C>A
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11938
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

16-3029694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029694
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029694
    reference: chr 16
allele count: 1
allele frequency: 8.35282325425994e-6
allele num: 119720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-36C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.353C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-36C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+115C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+115C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.392C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-36C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+123C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

16-3029695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029695
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029695
    reference: chr 16
allele count: 1
allele frequency: 8.350870160670742e-6
allele num: 119748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+122C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-37C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-37C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.352C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-37C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+114C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+114C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.391C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

16-3029699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029699
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029699
    reference: chr 16
allele count: 2
allele frequency: 1.671486118307788e-5
allele num: 119654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-41C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+118C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-41C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+110C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-41C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-41C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-41C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-41C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-41C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.348C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+110C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.387C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-41C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

16-3029701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029701
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029701
    reference: chr 16
allele count: 1
allele frequency: 8.358548287333457e-6
allele num: 119638
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-43G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+108G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+108G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+116G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-43G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.385G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-43G>A
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.346G>A
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11791
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-3029704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029704
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029704
    reference: chr 16
allele count: 2
allele frequency: 1.672800267648043e-5
allele num: 119560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+113C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+105C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+105C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.382C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.343C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10898
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

16-3029710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3029710
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3029710
    reference: chr 16
allele count: 1
allele frequency: 8.385884878572387e-6
allele num: 119248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458943
  ensembl transcript: ENST00000574385
  gene symbol: PKMYT1
  hgvsc: ENST00000574385.1:c.-18+99C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460598
  ensembl transcript: ENST00000574415
  gene symbol: PKMYT1
  hgvsc: ENST00000574415.1:c.-52C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000397739
  ensembl transcript: ENST00000440027
  gene symbol: PKMYT1
  hgvsc: ENST00000440027.2:c.-52C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000572658
  gene symbol: PKMYT1
  hgvsc: ENST00000572658.1:n.337C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000392855
  ensembl transcript: ENST00000431515
  gene symbol: PKMYT1
  hgvsc: ENST00000431515.2:c.-52C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458545
  ensembl transcript: ENST00000576268
  gene symbol: PKMYT1
  hgvsc: ENST00000576268.1:c.-18+107C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127564
  ensembl transcript: ENST00000570649
  gene symbol: PKMYT1
  hgvsc: ENST00000570649.1:n.376C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461628
  ensembl transcript: ENST00000572619
  gene symbol: PKMYT1
  hgvsc: ENST00000572619.1:c.-52C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000458842
  ensembl transcript: ENST00000572059
  gene symbol: PKMYT1
  hgvsc: ENST00000572059.1:c.-52C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000459123
  ensembl transcript: ENST00000573944
  gene symbol: PKMYT1
  hgvsc: ENST00000573944.1:c.-18+99C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000461330
  ensembl transcript: ENST00000575632
  gene symbol: PKMYT1
  hgvsc: ENST00000575632.1:c.-52C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000262300
  ensembl transcript: ENST00000262300
  gene symbol: PKMYT1
  hgvsc: ENST00000262300.8:c.-52C>T
  variant of: http://identifiers.org/hgnc/29650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127564
  ensembl protein: ENSP00000460868
  ensembl transcript: ENST00000574730
  gene symbol: PKMYT1
  hgvsc: ENST00000574730.1:c.-52C>T
  variant of: http://identifiers.org/hgnc/29650
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10740
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

16-3063314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063314
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063314
    reference: chr 16
allele count: 2
allele frequency: 2.17950394490214e-5
allele num: 91764
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.-50C>T
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19339
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7969
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8170
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7012
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.749531308586427e-5
  allele num: 53340
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

16-3063322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063322
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063322
    reference: chr 16
allele count: 3
allele frequency: 3.242051570233644e-5
allele num: 92534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.-42C>T
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4420
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 1.072041166380789e-4
  allele num: 9328
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 648
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

16-3063328-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063328
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063328
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 93500
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.-36C>G
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8326
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4470
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7136
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

16-3063329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063329
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063329
    reference: chr 16
allele count: 1
allele frequency: 1.065393876116e-5
allele num: 93862
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.-35C>T
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20240
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
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  allele num: 664
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population: Latino
  type: Population
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  allele num: 9474
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8358
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-3063330-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063330
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063330
    reference: chr 16
allele count: 4
allele frequency: 4.24079217997922e-5
allele num: 94322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.-34G>A
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11575
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4518
  num of homozygotes: 0
population: Other
  type: Population
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  allele num: 660
  num of homozygotes: 0
population: Latino
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  allele count: 0
  allele frequency: 0.0e0
  allele num: 9506
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

16-3063336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063336
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063336
    reference: chr 16
allele count: 1
allele frequency: 1.024380249948781e-5
allele num: 97620
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.-28G>A
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27800
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.77518994532415e-5
  allele num: 56332
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9830
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4668
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/16-3063338-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063338
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063338
    reference: chr 16
allele count: 1
allele frequency: 1.014939915556999e-5
allele num: 98528
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.-26C>A
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 56802
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 706
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population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9918
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

16-3063340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063340
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063340
    reference: chr 16
allele count: 3
allele frequency: 3.008001283413881e-5
allele num: 99734
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.-24G>A
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
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  allele num: 10402
  num of homozygotes: 0
population: Latino
  type: Population
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  allele frequency: 0.0e0
  allele num: 10042
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.103491796381994e-4
  allele num: 4754
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

16-3063353-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063353
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063353
    reference: chr 16
allele count: 3
allele frequency: 2.814047726249437e-5
allele num: 106608
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.-11C>T
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
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genotype depth: GenotypeDepth
  all individuals: 2840
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1592
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.301310620316266e-5
  allele num: 60582
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.221299462628236e-4
  allele num: 8188
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5096
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

16-3063354-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063354
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063354
    reference: chr 16
allele count: 2
allele frequency: 1.853052904660428e-5
allele num: 107930
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.-10G>T
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
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genotype depth: GenotypeDepth
  all individuals: 6116
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10800
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 760
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12546
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

16-3063366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063366
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063366
    reference: chr 16
allele count: 1
allele frequency: 8.817875597411071e-6
allele num: 113406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.3G>A
  hgvsp: ENSP00000398017.2:p.Met1?
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10044
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14466
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5454
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-3063371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063371
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063371
    reference: chr 16
allele count: 115
allele frequency: 1.001131714111604e-3
allele num: 114870
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.8C>T
  hgvsp: ENSP00000398017.2:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 40399
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10614
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 9.75e1
  variant carriers: 112
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41420
  bin: 6.25e1
  variant carriers: 2
hgvs: p.Ser3Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8530
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 4
  allele frequency: 4.962779156327543e-3
  allele num: 806
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

16-3063372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063372
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063372
    reference: chr 16
allele count: 10
allele frequency: 8.652315359590226e-5
allele num: 115576
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.9G>A
  hgvsp: ENST00000445369.2:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10763
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40684
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser3Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5618
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11260
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

16-3063375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063375
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063375
    reference: chr 16
allele count: 19
allele frequency: 1.628245779415546e-4
allele num: 116690
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.12C>T
  hgvsp: ENST00000445369.2:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41042
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11107
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42588
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 6403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr4Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 7
  allele frequency: 1.085069444444444e-4
  allele num: 64512
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 824
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

16-3063376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063376
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063376
    reference: chr 16
allele count: 3
allele frequency: 2.561431669541162e-5
allele num: 117122
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.13G>A
  hgvsp: ENSP00000398017.2:p.Gly5Ser
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly5Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10044
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 826
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

16-3063378-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063378
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063378
    reference: chr 16
allele count: 1
allele frequency: 8.510638297872341e-6
allele num: 117500
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.15C>G
  hgvsp: ENST00000445369.2:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly5Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11354
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64826
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-3063386-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063386
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063386
    reference: chr 16
allele count: 1
allele frequency: 8.43981567442567e-6
allele num: 118486
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.23T>G
  hgvsp: ENSP00000398017.2:p.Leu8Arg
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu8Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.131207847946045e-5
  allele num: 16310
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65252
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

16-3063392-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063392
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3063392
    reference: chr 16
allele count: 1
allele frequency: 8.414675193537529e-6
allele num: 118840
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213937
  ensembl protein: ENSP00000398017
  ensembl transcript: ENST00000445369
  gene symbol: CLDN9
  hgvsc: ENST00000445369.2:c.29G>T
  hgvsp: ENSP00000398017.2:p.Gly10Val
  variant of: http://identifiers.org/hgnc/2051
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly10Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8604
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6044
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G

GenotypeDepth
all individuals: 2
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 67
bin: 3.75e1
variant carriers: 11

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3808
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 662
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 30
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 288
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 258
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 630
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2021
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33255
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 470
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12728
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 151
bin: 9.75e1
variant carriers: 118

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3908
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.906976744186046e-3
allele num: 344
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 8.174386920980927e-4
allele num: 3670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 7.44047619047619e-4
allele num: 26880
num of homozygotes: 0

South Asian
type: Population
allele count: 103
allele frequency: 1.083070452155626e-2
allele num: 9510
num of homozygotes: 2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.191e1

FS
type: SiteQuality
SIO_000300: 1.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.26814e5

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3732
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.694945314809341e-5
allele num: 27064
num of homozygotes: 0

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

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

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

Other
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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SIO_000300: -1.16e-2

MQ
type: SiteQuality
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MQRankSum
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SIO_000300: 7.6e-1

GenotypeDepth
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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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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

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

European (Non-Finnish)
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allele frequency: 3.572449271220349e-5
allele num: 27992
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
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DP
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QD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 6.146e1

ReadPosRankSum
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SIO_000300: -1.01e-1

VQSLOD
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SIO_000300: 2.94e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29338
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

European (Finnish)
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East Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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QD
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -6.33e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -1.07e-2

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29338
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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DP
type: SiteQuality
SIO_000300: 7.46228e5

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

Latino
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allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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allele num: 4070
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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Other
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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QD
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GenotypeDepth
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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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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
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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VQSLOD
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SIO_000300: 4.7e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4074
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele num: 29968
num of homozygotes: 0

African
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num of homozygotes: 0

South Asian
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DP
type: SiteQuality
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ClippingRankSum
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MQ
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.25e1
variant carriers: 0

South Asian
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.784720808738721e-5
allele num: 29478
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1728
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

BaseQRankSum
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MQRankSum
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SIO_000300: -1.78e-1

MQ
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FS
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SIO_000300: 5.78e-1

InbreedingCoeff
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SIO_000300: -1.44e-2

VQSLOD
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SIO_000300: -1.175e0

QD
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SIO_000300: 6.25e0

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

GenotypeDepth
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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: 1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4462
num of homozygotes: 0

East Asian
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allele frequency: 7.433102081268583e-4
allele num: 4036
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
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

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

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -1.44e-2

DP
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
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ClippingRankSum
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SIO_000300: 9.29e-1

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

Other
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allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

East Asian
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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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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 count: 1
allele frequency: 5.694760820045558e-4
allele num: 1756
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 1.341921631776704e-4
allele num: 29808
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.901e1

ReadPosRankSum
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 8.95e-1

ClippingRankSum
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SIO_000300: 2.89e-1

InbreedingCoeff
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FS
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SIO_000300: 4.627e0

DP
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VQSLOD
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SIO_000300: -2.044e0

QD
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MQRankSum
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SIO_000300: -8.33e-1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1766
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 6.708407871198568e-4
allele num: 4472
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 1.686681959249764e-4
allele num: 29644
num of homozygotes: 0

Other
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

FS
type: SiteQuality
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

InbreedingCoeff
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SIO_000300: -1.47e-2

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 1
allele frequency: 2.258355916892502e-4
allele num: 4428
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1760
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 frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 1.703229322796021e-4
allele num: 29356
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.407851690294439e-5
allele num: 29344
num of homozygotes: 0

Latino
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African
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European (Finnish)
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Other
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East Asian
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South Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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QD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4408
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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African
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South Asian
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Other
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European (Non-Finnish)
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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QD
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

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

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

European (Finnish)
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allele num: 1760
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FS
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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African
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.671880737313652e-5
allele num: 27234
num of homozygotes: 0

Latino
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QD
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
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allele frequency: 9.718172983479106e-5
allele num: 10290
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
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African
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allele num: 10290
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Latino
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Other
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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East Asian
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FS
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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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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GenotypeQuality
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Other
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Latino
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African
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South Asian
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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FS
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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East Asian
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Other
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South Asian
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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African
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Other
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Latino
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European (Finnish)
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East Asian
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South Asian
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MQ
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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MQRankSum
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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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African
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MQ
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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FS
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VQSLOD
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QD
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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South Asian
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Latino
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Other
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 65834
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East Asian
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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allele num: 10252
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Other
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South Asian
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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: 0
allele frequency: 0.0e0
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.25e1
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Latino
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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: 6512
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

Other
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East Asian
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South Asian
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African
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQRankSum
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DP
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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FS
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DP
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 431
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.075976622577669e-4
allele num: 6502
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65792
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.180674e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.916e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

FS
type: SiteQuality
SIO_000300: 1.1033e1

ClippingRankSum
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SIO_000300: -5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.04e1

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7996
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.882e0

BaseQRankSum
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SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 1.968e0

QD
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SIO_000300: 1.543e1

MQ
type: SiteQuality
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ClippingRankSum
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SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 2.178893e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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GenotypeQuality
all individuals: 3385
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GenotypeQuality
all individuals: 2021
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.477051460361613e-4
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65776
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

ClippingRankSum
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SIO_000300: -5.33e-1

VQSLOD
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SIO_000300: 7.02e-1

DP
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SIO_000300: 2.174924e6

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.333e0

MQ
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SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.448e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4195
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GenotypeQuality
all individuals: 3385
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52031135976648e-5
allele num: 65776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.448e1

ClippingRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

DP
type: SiteQuality
SIO_000300: 2.174924e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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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: 4865
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521931026085898e-5
allele num: 65706
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6478
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521931026085898e-5
allele num: 65706
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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FS
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

Other
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num of homozygotes: 0

South Asian
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allele frequency: 6.084205402774397e-5
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African
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allele num: 10198
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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MQ
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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MQRankSum
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FS
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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African
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South Asian
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European (Finnish)
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Latino
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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FS
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VQSLOD
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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FS
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MQRankSum
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BaseQRankSum
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8622
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European (Finnish)
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European (Non-Finnish)
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Other
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African
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South Asian
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Latino
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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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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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.5e0
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GenotypeQuality
all individuals: 854
bin: 2.75e1
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GenotypeQuality
all individuals: 3363
bin: 4.75e1
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GenotypeQuality
all individuals: 118
bin: 1.25e1
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GenotypeQuality
all individuals: 323
bin: 1.75e1
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GenotypeQuality
all individuals: 1724
bin: 3.25e1
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GenotypeQuality
all individuals: 1450
bin: 4.25e1
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GenotypeQuality
all individuals: 6860
bin: 6.25e1
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GenotypeQuality
all individuals: 3065
bin: 9.25e1
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GenotypeQuality
all individuals: 1988
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 1036
bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5709
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13837
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3980
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528724737823707e-5
allele num: 65414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.973e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

FS
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

QD
type: SiteQuality
SIO_000300: 1.58e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

DP
type: SiteQuality
SIO_000300: 2.108102e6

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
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MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 3.358e0

DP
type: SiteQuality
SIO_000300: 8.80916e5

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.424e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53738
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.428953121204761e-4
allele num: 8234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.19316e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

MQ
type: SiteQuality
SIO_000300: 5.749e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.355e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

QD
type: SiteQuality
SIO_000300: 1.143e1

FS
type: SiteQuality
SIO_000300: 1.051e0

VQSLOD
type: SiteQuality
SIO_000300: -1.265e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.868e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54264
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 9.74368e5

QD
type: SiteQuality
SIO_000300: 1.365e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4498
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.838978998859833e-5
allele num: 54378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
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VQSLOD
type: SiteQuality
SIO_000300: -1.548e0

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.727e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 4.465e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 9.90558e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.723e0

QD
type: SiteQuality
SIO_000300: 1.423e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
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East Asian
type: Population
allele count: 1
allele frequency: 1.387732445184569e-4
allele num: 7206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.489478499542543e-5
allele num: 54650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.481e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.327e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 1.015509e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
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MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

QD
type: SiteQuality
SIO_000300: 2.894e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.163e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.39e1

DP
type: SiteQuality
SIO_000300: 1.099205e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4698
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.844457570387872e-5
allele num: 10158
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.855e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.09e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 1.11863e6

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 1.596e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.486871927194114e-5
allele num: 57358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.016e0

MQRankSum
type: SiteQuality
SIO_000300: 5.52e-1

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

DP
type: SiteQuality
SIO_000300: 1.143217e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12080
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 9.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.866e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.791e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 1.251904e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.272358388690729e-5
allele num: 61118
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 1.270018e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 8.19e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.580278128950695e-5
allele num: 63280
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.417999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.025e0

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.741e0

DP
type: SiteQuality
SIO_000300: 1.340267e6

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

European (Finnish)
type: Population
allele count: 68
allele frequency: 1.223021582733813e-2
allele num: 5560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.013171225937183e-4
allele num: 9870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 42
allele frequency: 6.578535179500031e-4
allele num: 63844
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 1.362502e6

QD
type: SiteQuality
SIO_000300: 1.352e1

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e0

FS
type: SiteQuality
SIO_000300: 6.55e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.404494382022472e-4
allele num: 64080
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.01010101010101e-4
allele num: 9900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15360
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.271e1

DP
type: SiteQuality
SIO_000300: 1.371458e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.750700280112045e-3
allele num: 5712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.268713524486171e-4
allele num: 15764
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.86e-1

FS
type: SiteQuality
SIO_000300: 2.082e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.386434e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 1.455e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.333177788147457e-4
allele num: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.285355122564425e-5
allele num: 15910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.391265e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.87e-1

FS
type: SiteQuality
SIO_000300: 1.012e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5808
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-1

QD
type: SiteQuality
SIO_000300: 1.682e1

DP
type: SiteQuality
SIO_000300: 1.396939e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.438e0

DP
type: SiteQuality
SIO_000300: 1.408605e6

VQSLOD
type: SiteQuality
SIO_000300: -1.055e0

MQRankSum
type: SiteQuality
SIO_000300: -1.463e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.242e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.35e0

QD
type: SiteQuality
SIO_000300: 1.155e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.850275807722617e-5
allele num: 10152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0