1-28208510-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208510
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208510
    reference: chr 1
allele count: 1
allele frequency: 8.439388313135065e-6
allele num: 118492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-514T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.675T>C
  hgvsp: ENST00000373921.3:c.675T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-514T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.353T>C
  hgvsp: ENST00000456990.1:c.353T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.264T>C
  hgvsp: ENST00000442118.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-514T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.675T>C
  hgvsp: ENST00000328928.7:c.675T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3296T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1945T>C
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser225Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-28208512-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208512
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208512
    reference: chr 1
allele count: 8
allele frequency: 6.73548082913769e-5
allele num: 118774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-512C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1947C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.266C>A
  hgvsp: ENSP00000413725.1:p.Thr89Asn
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.677C>A
  hgvsp: ENSP00000329862.7:p.Thr226Asn
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.677C>A
  hgvsp: ENSP00000363031.3:p.Thr226Asn
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.355C>A
  hgvsp: ENSP00000398049.1:p.Thr119Asn
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3294C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-512C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-512C>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr226Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

1-28208516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208516
    reference: chr 1
allele count: 1
allele frequency: 8.387572971884856e-6
allele num: 119224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.359G>A
  hgvsp: ENST00000456990.1:c.359G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-508G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.270G>A
  hgvsp: ENST00000442118.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-508G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-508G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3290G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.681G>A
  hgvsp: ENST00000328928.7:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.681G>A
  hgvsp: ENST00000373921.3:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1951G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu227Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

1-28208517-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208517
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208517
    reference: chr 1
allele count: 1
allele frequency: 8.381808123648433e-6
allele num: 119306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.271G>C
  hgvsp: ENSP00000413725.1:p.Glu91Gln
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-507G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.682G>C
  hgvsp: ENSP00000363031.3:p.Glu228Gln
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-507G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3289G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-507G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.360G>C
  hgvsp: ENSP00000398049.1:p.Glu121Gln
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1952G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.682G>C
  hgvsp: ENSP00000329862.7:p.Glu228Gln
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu228Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-28208522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208522
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208522
    reference: chr 1
allele count: 2
allele frequency: 1.672716324038606e-5
allele num: 119566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1957C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-502C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.365C>T
  hgvsp: ENST00000456990.1:c.365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.687C>T
  hgvsp: ENST00000328928.7:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-502C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3284C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.687C>T
  hgvsp: ENST00000373921.3:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.276C>T
  hgvsp: ENST00000442118.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-502C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val229Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-28208525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208525
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208525
    reference: chr 1
allele count: 56
allele frequency: 4.672819211962417e-4
allele num: 119842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-499C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1960C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.690C>T
  hgvsp: ENST00000328928.7:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.368C>T
  hgvsp: ENST00000456990.1:c.368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.690C>T
  hgvsp: ENST00000373921.3:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3281C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.279C>T
  hgvsp: ENST00000442118.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-499C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-499C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29439
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20175
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp230Asp
num of homozygotes: 3
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

1-28208529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208529
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208529
    reference: chr 1
allele count: 2
allele frequency: 1.666305633779348e-5
allele num: 120026
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.694G>A
  hgvsp: ENSP00000363031.3:p.Glu232Lys
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.283G>A
  hgvsp: ENSP00000413725.1:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.694G>A
  hgvsp: ENSP00000329862.7:p.Glu232Lys
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1964G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-495G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-495G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.372G>A
  hgvsp: ENSP00000398049.1:p.Glu125Lys
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-495G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3277G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu232Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-28208535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208535
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208535
    reference: chr 1
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.378G>A
  hgvsp: ENSP00000398049.1:p.Val127Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.700G>A
  hgvsp: ENSP00000363031.3:p.Val234Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.289G>A
  hgvsp: ENSP00000413725.1:p.Val97Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1970G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3271G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-489G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-489G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.700G>A
  hgvsp: ENSP00000329862.7:p.Val234Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-489G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val234Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

1-28208540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208540
    reference: chr 1
allele count: 1
allele frequency: 8.315870006320061e-6
allele num: 120252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.705C>T
  hgvsp: ENST00000328928.7:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-484C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.705C>T
  hgvsp: ENST00000373921.3:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3266C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.383C>T
  hgvsp: ENST00000456990.1:c.383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.294C>T
  hgvsp: ENST00000442118.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1975C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-484C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-484C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr235Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-28208542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208542
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208542
    reference: chr 1
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.296C>T
  hgvsp: ENSP00000413725.1:p.Ala99Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-482C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-482C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.707C>T
  hgvsp: ENSP00000329862.7:p.Ala236Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3264C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1977C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.707C>T
  hgvsp: ENSP00000363031.3:p.Ala236Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.385C>T
  hgvsp: ENSP00000398049.1:p.Ala129Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-482C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala236Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-28208547-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208547
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208547
    reference: chr 1
allele count: 4
allele frequency: 3.323584153150758e-5
allele num: 120352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1982T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.712T>C
  hgvsp: ENSP00000363031.3:p.Ser238Pro
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.390T>C
  hgvsp: ENSP00000398049.1:p.Ser131Pro
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3259T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.301T>C
  hgvsp: ENSP00000413725.1:p.Ser101Pro
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.712T>C
  hgvsp: ENSP00000329862.7:p.Ser238Pro
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-477T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-477T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-477T>C
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser238Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-28208550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208550
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208550
    reference: chr 1
allele count: 2
allele frequency: 1.661405549094534e-5
allele num: 120380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.393C>T
  hgvsp: ENSP00000398049.1:p.Arg132Trp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.304C>T
  hgvsp: ENSP00000413725.1:p.Arg102Trp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3256C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.715C>T
  hgvsp: ENSP00000329862.7:p.Arg239Trp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-474C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-474C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.715C>T
  hgvsp: ENSP00000363031.3:p.Arg239Trp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1985C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-474C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8296
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg239Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

1-28208555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208555
    reference: chr 1
allele count: 14
allele frequency: 1.162578266429722e-4
allele num: 120422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.398C>T
  hgvsp: ENST00000456990.1:c.398C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.309C>T
  hgvsp: ENST00000442118.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.720C>T
  hgvsp: ENST00000328928.7:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1990C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-469C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-469C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-469C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.720C>T
  hgvsp: ENST00000373921.3:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3251C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His240His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-28208556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208556
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208556
    reference: chr 1
allele count: 3
allele frequency: 2.491073652744333e-5
allele num: 120430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-468G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.721G>A
  hgvsp: ENSP00000363031.3:p.Val241Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3250G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.310G>A
  hgvsp: ENSP00000413725.1:p.Val104Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.721G>A
  hgvsp: ENSP00000329862.7:p.Val241Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.399G>A
  hgvsp: ENSP00000398049.1:p.Val134Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+1991G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-468G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-468G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val241Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-28208567-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208567
    reference: chr 1
allele count: 6
allele frequency: 4.981733643307871e-5
allele num: 120440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-457C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2002C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-457C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3239C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.321C>G
  hgvsp: ENSP00000413725.1:p.Ile107Met
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.410C>G
  hgvsp: ENSP00000398049.1:p.Ile137Met
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.732C>G
  hgvsp: ENSP00000329862.7:p.Ile244Met
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.732C>G
  hgvsp: ENSP00000363031.3:p.Ile244Met
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-457C>G
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile244Met
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-28208572-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208572
    reference: chr 1
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.415C>G
  hgvsp: ENSP00000398049.1:p.Pro139Arg
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-452C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2007C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3234C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.737C>G
  hgvsp: ENSP00000363031.3:p.Pro246Arg
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-452C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-452C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.326C>G
  hgvsp: ENSP00000413725.1:p.Pro109Arg
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.737C>G
  hgvsp: ENSP00000329862.7:p.Pro246Arg
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro246Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-28208572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208572
    reference: chr 1
allele count: 14
allele frequency: 1.162269414050177e-4
allele num: 120454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-452C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.415C>T
  hgvsp: ENSP00000398049.1:p.Pro139Leu
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.737C>T
  hgvsp: ENSP00000363031.3:p.Pro246Leu
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-452C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.737C>T
  hgvsp: ENSP00000329862.7:p.Pro246Leu
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3234C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-452C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.326C>T
  hgvsp: ENSP00000413725.1:p.Pro109Leu
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2007C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro246Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

1-28208585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208585
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208585
    reference: chr 1
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-439C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-439C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2020C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.750C>T
  hgvsp: ENST00000373921.3:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.428C>T
  hgvsp: ENST00000456990.1:c.428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-439C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.339C>T
  hgvsp: ENST00000442118.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.750C>T
  hgvsp: ENST00000328928.7:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3221C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser250Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

1-28208589-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208589
    reference: chr 1
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.754G>C
  hgvsp: ENSP00000329862.7:p.Val252Leu
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.754G>C
  hgvsp: ENSP00000363031.3:p.Val252Leu
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-435G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.343G>C
  hgvsp: ENSP00000413725.1:p.Val115Leu
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3217G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2024G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-435G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-435G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+1G>C
  variant of: http://identifiers.org/hgnc/16839
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
hgvs: c.431+1G>C
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-28208592-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208592
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208592
    reference: chr 1
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-432C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.757C>G
  hgvsp: ENSP00000363031.3:p.Leu253Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+4C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-432C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3214C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.346C>G
  hgvsp: ENSP00000413725.1:p.Leu116Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-432C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.757C>G
  hgvsp: ENSP00000329862.7:p.Leu253Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2027C>G
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu253Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

1-28208597-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208597
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208596
    reference: chr 1
allele count: 1
allele frequency: 8.303992559622666e-6
allele num: 120424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-426delT
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2033delT
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.763delT
  hgvsp: ENSP00000329862.7:p.Trp255GlyfsTer15
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.352delT
  hgvsp: ENSP00000413725.1:p.Trp118GlyfsTer40
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-426delT
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.763delT
  hgvsp: ENSP00000363031.3:p.Trp255GlyfsTer40
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3208delT
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-426delT
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+10delT
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp255GlyfsTer40
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: CT
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-28208608-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208608
    reference: chr 1
allele count: 2
allele frequency: 1.661377946869133e-5
allele num: 120382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-416C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2043C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.773C>G
  hgvsp: ENSP00000363031.3:p.Pro258Arg
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.362C>G
  hgvsp: ENSP00000413725.1:p.Pro121Arg
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.773C>G
  hgvsp: ENSP00000329862.7:p.Pro258Arg
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-416C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3198C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-416C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+20C>G
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro258Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-28208609-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208609
    reference: chr 1
allele count: 1
allele frequency: 8.306613725848521e-6
allele num: 120386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.363T>C
  hgvsp: ENST00000442118.1:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-415T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-415T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2044T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.774T>C
  hgvsp: ENST00000328928.7:c.774T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+21T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3197T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-415T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.774T>C
  hgvsp: ENST00000373921.3:c.774T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro258Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

1-28208622-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208622
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208622
    reference: chr 1
allele count: 1
allele frequency: 8.309788931361144e-6
allele num: 120340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.376A>G
  hgvsp: ENSP00000413725.1:p.Met126Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.787A>G
  hgvsp: ENSP00000363031.3:p.Met263Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-402A>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.787A>G
  hgvsp: ENSP00000329862.7:p.Met263Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-402A>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3184A>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+34A>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2057A>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-402A>G
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met263Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

1-28208634-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208634
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208634
    reference: chr 1
allele count: 1
allele frequency: 8.317530026283395e-6
allele num: 120228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3172G>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2069G>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.799G>T
  hgvsp: ENSP00000329862.7:p.Glu267Ter
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-390G>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.799G>T
  hgvsp: ENSP00000363031.3:p.Glu267Ter
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-390G>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.388G>T
  hgvsp: ENSP00000413725.1:p.Glu130Ter
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+46G>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-390G>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu267Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

1-28208637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208637
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208637
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 120212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+1G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-387G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-387G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.391G>A
  hgvsp: ENSP00000413725.1:p.Val131Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.802G>A
  hgvsp: ENSP00000363031.3:p.Val268Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2072G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-387G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+49G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3169G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: false
consequence: splice donor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 29095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 9.75e1
  variant carriers: 1
hgvs: c.801+1G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-28208642-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208642
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208642
    reference: chr 1
allele count: 1
allele frequency: 8.323345318950592e-6
allele num: 120144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-382T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+54T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.807T>C
  hgvsp: ENST00000373921.3:c.807T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.396T>C
  hgvsp: ENST00000442118.1:c.396T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-382T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3164T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-382T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+6T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2077T>C
  variant of: http://identifiers.org/hgnc/16839
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
hgvs: c.801+6T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-28208645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208645
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208645
    reference: chr 1
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+9G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.810G>A
  hgvsp: ENST00000373921.3:c.810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3161G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2080G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-379G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.399G>A
  hgvsp: ENST00000442118.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-379G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+57G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-379G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu270Glu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-28208649-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208649
    reference: chr 1
allele count: 2
allele frequency: 1.666555562962469e-5
allele num: 120008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.403C>A
  hgvsp: ENSP00000413725.1:p.Arg135Ser
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-375C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+13C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-375C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-375C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.814C>A
  hgvsp: ENSP00000363031.3:p.Arg272Ser
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3157C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2084C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+61C>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20558
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg272Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-28208649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208649
    reference: chr 1
allele count: 19
allele frequency: 1.583227784814346e-4
allele num: 120008
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.814C>T
  hgvsp: ENSP00000363031.3:p.Arg272Cys
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+61C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.403C>T
  hgvsp: ENSP00000413725.1:p.Arg135Cys
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+13C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3157C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-375C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-375C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2084C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-375C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20558
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg272Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

1-28208650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208650
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208650
    reference: chr 1
allele count: 4
allele frequency: 3.334000133360006e-5
allele num: 119976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.404G>A
  hgvsp: ENSP00000413725.1:p.Arg135His
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-374G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+62G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.815G>A
  hgvsp: ENSP00000363031.3:p.Arg272His
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+14G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2085G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-374G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-374G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3156G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg272His
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

1-28208659-TCCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208655
    reference: chr 1
allele count: 1
allele frequency: 8.346827370916315e-6
allele num: 119806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-364_109-361delCCTC
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3146_236-3143delCCTC
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+72_431+75delCCTC
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2095_646+2098delCCTC
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-364_622-361delCCTC
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+24_801+27delCCTC
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.825_828delCCTC
  hgvsp: ENSP00000363031.3:p.Phe275LeufsTer19
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-364_46-361delCCTC
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.414_417delCCTC
  hgvsp: ENSP00000413725.1:p.Phe138LeufsTer19
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe275LeufsTer19
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: TCCTC
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-28208661-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208661
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208661
    reference: chr 1
allele count: 1
allele frequency: 8.350172848577966e-6
allele num: 119758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3145C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.826C>G
  hgvsp: ENSP00000363031.3:p.Leu276Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-363C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.415C>G
  hgvsp: ENSP00000413725.1:p.Leu139Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2096C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-363C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-363C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+73C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+25C>G
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu276Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-28208668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208668
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208668
    reference: chr 1
allele count: 1
allele frequency: 8.366240546148183e-6
allele num: 119528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.422C>T
  hgvsp: ENSP00000413725.1:p.Pro141Leu
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.833C>T
  hgvsp: ENSP00000363031.3:p.Pro278Leu
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-356C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+80C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-356C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+32C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3138C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-356C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2103C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro278Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-28208669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208669
    reference: chr 1
allele count: 7
allele frequency: 5.857152419840686e-5
allele num: 119512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2104G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+81G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-355G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-355G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+33G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.423G>A
  hgvsp: ENST00000442118.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-355G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.834G>A
  hgvsp: ENST00000373921.3:c.834G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3137G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20415
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro278Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-28208702-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208702
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208702
    reference: chr 1
allele count: 1
allele frequency: 8.48838788537281e-6
allele num: 117808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3104T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-322T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+66T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.456T>C
  hgvsp: ENST00000442118.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.867T>C
  hgvsp: ENST00000373921.3:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+114T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-322T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2137T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-322T>C
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu289Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-28208705-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208705
    reference: chr 1
allele count: 631
allele frequency: 5.376435704304557e-3
allele num: 117364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-319C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+117C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-319C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3101C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+69C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-319C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.870C>T
  hgvsp: ENST00000373921.3:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2140C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.459C>T
  hgvsp: ENST00000442118.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 3.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 1.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 23411
  bin: 2.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 18975
  bin: 2.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 3.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys290Cys
num of homozygotes: 19
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

1-28208706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208706
    reference: chr 1
allele count: 3
allele frequency: 2.5556710340245e-5
allele num: 117386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2141G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-318G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.871G>A
  hgvsp: ENSP00000363031.3:p.Val291Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-318G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-318G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+118G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.460G>A
  hgvsp: ENSP00000413725.1:p.Val154Ile
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3100G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+70G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23536
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Val291Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

1-28208711-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208711
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208711
    reference: chr 1
allele count: 1
allele frequency: 8.553880895762407e-6
allele num: 116906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-313T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-313T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+123T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3095T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-313T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2146T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+75T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.465T>C
  hgvsp: ENST00000442118.1:c.465T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.876T>C
  hgvsp: ENST00000373921.3:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18587
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32542
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr292Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-28208715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208715
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208715
    reference: chr 1
allele count: 2
allele frequency: 1.719424336732062e-5
allele num: 116318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-309C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-309C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2150C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-309C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3091C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+127C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.880C>T
  hgvsp: ENST00000373921.3:c.880C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.469C>T
  hgvsp: ENST00000442118.1:c.469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+79C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu294Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-28208720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208720
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208720
    reference: chr 1
allele count: 1
allele frequency: 8.635280301198577e-6
allele num: 115804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-304C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+132C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+84C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.474C>T
  hgvsp: ENST00000442118.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-304C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2155C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-304C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3086C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.885C>T
  hgvsp: ENST00000373921.3:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala295Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-28208727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208727
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208727
    reference: chr 1
allele count: 7
allele frequency: 6.086215591145426e-5
allele num: 115014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.892C>T
  hgvsp: ENSP00000363031.3:p.Pro298Ser
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+139C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-297C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-297C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+91C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-297C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2162C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.481C>T
  hgvsp: ENSP00000413725.1:p.Pro161Ser
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3079C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20153
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro298Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

1-28208732-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208732
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208732
    reference: chr 1
allele count: 1
allele frequency: 8.751509635412108e-6
allele num: 114266
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.897G>C
  hgvsp: ENSP00000363031.3:p.Trp299Cys
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3074G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-292G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-292G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+96G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.486G>C
  hgvsp: ENSP00000413725.1:p.Trp162Cys
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+144G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-292G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2167G>C
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6415
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Trp299Cys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-28208733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208733
    reference: chr 1
allele count: 2
allele frequency: 1.755094160801727e-5
allele num: 113954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-291C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+145C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-291C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2168C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.487C>T
  hgvsp: ENSP00000413725.1:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.898C>T
  hgvsp: ENSP00000363031.3:p.Arg300Trp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3073C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-291C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+97C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17580
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg300Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-28208738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208738
    reference: chr 1
allele count: 1
allele frequency: 8.777011252128426e-6
allele num: 113934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3068C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.492C>T
  hgvsp: ENST00000442118.1:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2173C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-286C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.903C>T
  hgvsp: ENST00000373921.3:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-286C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+150C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-286C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+102C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20502
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6598
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val301Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-28208739-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208739
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208739
    reference: chr 1
allele count: 1
allele frequency: 8.777165326686094e-6
allele num: 113932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+103C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.904C>G
  hgvsp: ENSP00000363031.3:p.Leu302Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-285C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-285C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2174C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.493C>G
  hgvsp: ENSP00000413725.1:p.Leu165Val
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-285C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3067C>G
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+151C>G
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu302Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/1-28208744-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208744
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208744
    reference: chr 1
allele count: 2
allele frequency: 1.761028440609316e-5
allele num: 113570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-280C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+108C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.909C>A
  hgvsp: ENST00000373921.3:c.909C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.498C>A
  hgvsp: ENST00000442118.1:c.498C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2179C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-280C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+156C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-280C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3062C>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17186
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29512
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala303Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-28208755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208755
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208755
    reference: chr 1
allele count: 1
allele frequency: 8.874689385871495e-6
allele num: 112680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-269G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-269G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.920G>A
  hgvsp: ENSP00000363031.3:p.Gly307Asp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2190G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.509G>A
  hgvsp: ENSP00000413725.1:p.Gly170Asp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3051G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+119G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+167G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-269G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16342
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly307Asp
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-28208757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208757
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208757
    reference: chr 1
allele count: 5
allele frequency: 4.440812846383402e-5
allele num: 112592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2192C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-267C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+169C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-267C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+121C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.922C>T
  hgvsp: ENSP00000363031.3:p.Arg308Cys
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3049C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-267C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.511C>T
  hgvsp: ENSP00000413725.1:p.Arg171Cys
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg308Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-28208758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208758
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208758
    reference: chr 1
allele count: 18
allele frequency: 1.604249478618919e-4
allele num: 112202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-266G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+122G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.512G>A
  hgvsp: ENSP00000413725.1:p.Arg171His
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2193G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.923G>A
  hgvsp: ENSP00000363031.3:p.Arg308His
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-266G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-266G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+170G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3048G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16289
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20160
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28061
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg308His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

1-28208759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208759
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208759
    reference: chr 1
allele count: 7
allele frequency: 6.219126479263655e-5
allele num: 112556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-265C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+123C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+171C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-265C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-265C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3047C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2194C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.924C>T
  hgvsp: ENST00000373921.3:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.513C>T
  hgvsp: ENST00000442118.1:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16220
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20340
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6442
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg308Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-28208767-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208767
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208767
    reference: chr 1
allele count: 1
allele frequency: 8.900281248887465e-6
allele num: 112356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+131C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+179C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-257C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2202C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.521C>A
  hgvsp: ENSP00000413725.1:p.Pro174His
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-257C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.932C>A
  hgvsp: ENSP00000363031.3:p.Pro311His
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-257C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3039C>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro311His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

1-28208783-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208783
    reference: chr 1
allele count: 1
allele frequency: 8.94134477825465e-6
allele num: 111840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-241G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-241G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-241G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.948G>C
  hgvsp: ENST00000373921.3:c.948G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3023G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.537G>C
  hgvsp: ENST00000442118.1:c.537G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+195G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+147G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2218G>C
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6548
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val316Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-28208785-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208783
    reference: chr 1
allele count: 2
allele frequency: 1.791023390765483e-5
allele num: 111668
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.951_952delAG
  hgvsp: ENSP00000363031.3:p.Gly319LeufsTer17
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2221_646+2222delAG
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+198_431+199delAG
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.540_541delAG
  hgvsp: ENSP00000413725.1:p.Gly182LeufsTer17
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3020_236-3019delAG
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-238_622-237delAG
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-238_109-237delAG
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-238_46-237delAG
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+150_801+151delAG
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20205
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly319LeufsTer17
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: CAG
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-28208790-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208790
    reference: chr 1
allele count: 2
allele frequency: 1.793400286944046e-5
allele num: 111520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-234G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.955G>C
  hgvsp: ENSP00000363031.3:p.Gly319Arg
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+154G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.544G>C
  hgvsp: ENSP00000413725.1:p.Gly182Arg
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-234G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-3016G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2225G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-234G>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.431+202G>C
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19840
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly319Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-28208808-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208808
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208808
    reference: chr 1
allele count: 4
allele frequency: 3.669522778562648e-5
allele num: 109006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+172C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-216C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-216C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.562C>A
  hgvsp: ENST00000442118.1:c.562C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2243C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.973C>A
  hgvsp: ENST00000373921.3:c.973C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-216C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-216C>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2998C>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16073
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg325Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-28208811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208811
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208811
    reference: chr 1
allele count: 3
allele frequency: 2.749569234153316e-5
allele num: 109108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2995C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-213C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+175C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-213C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-213C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.565C>T
  hgvsp: ENSP00000413725.1:p.Arg189Trp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.976C>T
  hgvsp: ENSP00000363031.3:p.Arg326Trp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-213C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2246C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16072
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg326Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-28208814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208814
    reference: chr 1
allele count: 1
allele frequency: 9.202849202112974e-6
allele num: 108662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-210C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2249C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2992C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-210C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-210C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+178C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-210C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.979C>T
  hgvsp: ENSP00000363031.3:p.Arg327Trp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.568C>T
  hgvsp: ENSP00000413725.1:p.Arg190Trp
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16031
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg327Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP

1-28208815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208815
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208815
    reference: chr 1
allele count: 2
allele frequency: 1.836412384765123e-5
allele num: 108908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-209G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-209G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-209G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.980G>A
  hgvsp: ENSP00000363031.3:p.Arg327Gln
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2250G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.569G>A
  hgvsp: ENSP00000413725.1:p.Arg190Gln
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-209G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2991G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+179G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7362
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg327Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-28208816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208816
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208816
    reference: chr 1
allele count: 2
allele frequency: 1.836918385716123e-5
allele num: 108878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2251G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-208G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-208G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+180G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-208G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-208G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.570G>A
  hgvsp: ENST00000442118.1:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.981G>A
  hgvsp: ENST00000373921.3:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2990G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16097
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg327Arg
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-28208817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208817
    reference: chr 1
allele count: 2
allele frequency: 1.838235294117647e-5
allele num: 108800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-207C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.571C>T
  hgvsp: ENSP00000413725.1:p.Pro191Ser
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-207C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.982C>T
  hgvsp: ENSP00000363031.3:p.Pro328Ser
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+181C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2989C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2252C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-207C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-207C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro328Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

1-28208826-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208826
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208826
    reference: chr 1
allele count: 1
allele frequency: 9.203357384773966e-6
allele num: 108656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+190T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2980T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.991T>C
  hgvsp: ENSP00000363031.3:p.Phe331Leu
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.580T>C
  hgvsp: ENSP00000413725.1:p.Phe194Leu
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2261T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-198T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-198T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-198T>C
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-198T>C
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe331Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

1-28208828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208828
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208828
    reference: chr 1
allele count: 1
allele frequency: 9.20691623547609e-6
allele num: 108614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-196C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2978C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.582C>T
  hgvsp: ENST00000442118.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2263C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.993C>T
  hgvsp: ENST00000373921.3:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-196C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-196C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-196C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+192C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16517
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe331Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

1-28208829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208829
    reference: chr 1
allele count: 19
allele frequency: 1.747094306311608e-4
allele num: 108752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-195C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-195C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2977C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.583C>T
  hgvsp: ENSP00000413725.1:p.Pro195Ser
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-195C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-195C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.994C>T
  hgvsp: ENSP00000363031.3:p.Pro332Ser
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.801+193C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2264C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18802
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16636
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro332Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-28208833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208833
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208833
    reference: chr 1
allele count: 1
allele frequency: 9.219818922756356e-6
allele num: 108462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-191C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2268C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.998C>T
  hgvsp: ENSP00000363031.3:p.Thr333Met
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-191C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-191C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.587C>T
  hgvsp: ENSP00000413725.1:p.Thr196Met
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.802-191C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-191C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2973C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr333Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-28208834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208834
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208834
    reference: chr 1
allele count: 2
allele frequency: 1.840366601026925e-5
allele num: 108674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-190G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-190G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2972G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-190G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.999G>A
  hgvsp: ENST00000373921.3:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-190G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.588G>A
  hgvsp: ENST00000442118.1:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2269G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.802-190G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr333Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-28208844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208844
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208844
    reference: chr 1
allele count: 1
allele frequency: 9.196586227192466e-6
allele num: 108736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-180C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-180C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.1009C>T
  hgvsp: ENSP00000363031.3:p.Leu337Phe
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-180C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2279C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.802-180C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-180C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2962C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.598C>T
  hgvsp: ENSP00000413725.1:p.Leu200Phe
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17787
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu337Phe
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-28208851-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208851
    reference: chr 1
allele count: 3
allele frequency: 2.75148580233326e-5
allele num: 109032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-173G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.605G>A
  hgvsp: ENSP00000413725.1:p.Gly202Asp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.802-173G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2286G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-173G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-173G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.1016G>A
  hgvsp: ENSP00000363031.3:p.Gly339Asp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-173G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2955G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18127
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly339Asp
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

1-28208861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208861
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208861
    reference: chr 1
allele count: 1
allele frequency: 9.150805270863836e-6
allele num: 109280
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.1026G>A
  hgvsp: ENST00000373921.3:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2296G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-163G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.802-163G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2945G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-163G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.615G>A
  hgvsp: ENST00000442118.1:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-163G>A
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-163G>A
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln342Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-28208868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28208868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 28208868
    reference: chr 1
allele count: 9
allele frequency: 8.185538881309687e-5
allele num: 109950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000329862
  ensembl transcript: ENST00000328928
  gene symbol: THEMIS2
  hgvsc: ENST00000328928.7:c.802-156C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363031
  ensembl transcript: ENST00000373921
  gene symbol: THEMIS2
  hgvsc: ENST00000373921.3:c.1033C>T
  hgvsp: ENSP00000363031.3:p.Arg345Trp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363037
  ensembl transcript: ENST00000373927
  gene symbol: THEMIS2
  hgvsc: ENST00000373927.3:c.236-2938C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000413725
  ensembl transcript: ENST00000442118
  gene symbol: THEMIS2
  hgvsc: ENST00000442118.1:c.622C>T
  hgvsp: ENSP00000413725.1:p.Arg208Trp
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000466068
  gene symbol: THEMIS2
  hgvsc: ENST00000466068.1:n.622-156C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000398049
  ensembl transcript: ENST00000456990
  gene symbol: THEMIS2
  hgvsc: ENST00000456990.1:c.432-156C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000482828
  gene symbol: THEMIS2
  hgvsc: ENST00000482828.1:n.46-156C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl protein: ENSP00000363035
  ensembl transcript: ENST00000373925
  gene symbol: THEMIS2
  hgvsc: ENST00000373925.1:c.646+2303C>T
  variant of: http://identifiers.org/hgnc/16839
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130775
  ensembl transcript: ENST00000467258
  gene symbol: THEMIS2
  hgvsc: ENST00000467258.1:n.109-156C>T
  variant of: http://identifiers.org/hgnc/16839
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg345Trp
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 181
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520542529574552e-5
allele num: 65766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15506
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.525814e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

QD
type: SiteQuality
SIO_000300: 1.612e1

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 9.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.214550312746706e-4
allele num: 65868
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.52948e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.038e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.165e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 1.248e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: -2.671e0

DP
type: SiteQuality
SIO_000300: 1.534105e6

QD
type: SiteQuality
SIO_000300: 2.995e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8201
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 2.954e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-1

QD
type: SiteQuality
SIO_000300: 1.465e1

DP
type: SiteQuality
SIO_000300: 1.534991e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2663
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.02571860816944e-5
allele num: 66100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

FS
type: SiteQuality
SIO_000300: 1.2917e1

QD
type: SiteQuality
SIO_000300: 1.195e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: -1.061e0

DP
type: SiteQuality
SIO_000300: 1.538616e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 52

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

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

African
type: Population
allele count: 1
allele frequency: 1.025641025641026e-4
allele num: 9750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511030522816561e-5
allele num: 66180
num of homozygotes: 0

South Asian
type: Population
allele count: 54
allele frequency: 3.313289974229967e-3
allele num: 16298
num of homozygotes: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.543365e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

FS
type: SiteQuality
SIO_000300: 3.102e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.68e-2

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1370
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50952510340247e-5
allele num: 66246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

DP
type: SiteQuality
SIO_000300: 1.544458e6

QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-1

FS
type: SiteQuality
SIO_000300: 1.344e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-1

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 600
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

African
type: Population
allele count: 0
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allele num: 9766
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South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
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Other
type: Population
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VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.507e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.121e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

DP
type: SiteQuality
SIO_000300: 1.546529e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2687
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GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 8.878e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 1.548177e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1369
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 5.121e0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

DP
type: SiteQuality
SIO_000300: 1.548582e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-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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variant carriers: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.021919788028423e-5
allele num: 66424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.252e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

DP
type: SiteQuality
SIO_000300: 1.549514e6

MQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 1.097e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.326122354035822e-4
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.244e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

FS
type: SiteQuality
SIO_000300: 1.751e0

QD
type: SiteQuality
SIO_000300: 2.122e1

DP
type: SiteQuality
SIO_000300: 1.550082e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008423586040914e-5
allele num: 66480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.04626830969542e-3
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.113e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

QD
type: SiteQuality
SIO_000300: 1.08e1

DP
type: SiteQuality
SIO_000300: 1.551356e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-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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variant carriers: 3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00833308263891e-5
allele num: 66482
num of homozygotes: 0

East Asian
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allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.550786e6

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
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Other
type: Population
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allele frequency: 0.0e0
allele num: 894
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East Asian
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allele count: 6
allele frequency: 6.975122064636131e-4
allele num: 8602
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66496
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QD
type: SiteQuality
SIO_000300: 1.429e1

DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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 count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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South Asian
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MQRankSum
type: SiteQuality
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 896
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6594
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European (Non-Finnish)
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allele frequency: 1.653936368557166e-4
allele num: 66508
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 3.06873977086743e-4
allele num: 9776
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South Asian
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42428
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.551463e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.695e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.138e0

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

GenotypeQuality
all individuals: 2702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.647e1

VQSLOD
type: SiteQuality
SIO_000300: -4.29e-2

FS
type: SiteQuality
SIO_000300: 7.299e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.551434e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 235
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42433
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.731e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.415e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

QD
type: SiteQuality
SIO_000300: 1.051e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.551359e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.067e1

DP
type: SiteQuality
SIO_000300: 1.551143e6

FS
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

QD
type: SiteQuality
SIO_000300: 1.52e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 599
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2447
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009419482981733e-5
allele num: 66458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

DP
type: SiteQuality
SIO_000300: 1.551502e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.279e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

FS
type: SiteQuality
SIO_000300: 3.772e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.298e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 280
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variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 1.509e1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 1.551216e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.636e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.550323e6

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

FS
type: SiteQuality
SIO_000300: 2.619e0

VQSLOD
type: SiteQuality
SIO_000300: -1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 42103
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.62e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.548185e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

FS
type: SiteQuality
SIO_000300: 2.327e0

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: 613
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GenotypeQuality
all individuals: 41
bin: 4.75e1
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GenotypeQuality
all individuals: 2441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.178e0

VQSLOD
type: SiteQuality
SIO_000300: -1.435e0

FS
type: SiteQuality
SIO_000300: 1.1374e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.548104e6

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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: 8592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.075e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.91e-1

FS
type: SiteQuality
SIO_000300: 2.252e0

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

DP
type: SiteQuality
SIO_000300: 1.546115e6

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.38e-1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.293e0

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

DP
type: SiteQuality
SIO_000300: 1.545084e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.294e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.213e0

MQRankSum
type: SiteQuality
SIO_000300: -1.171e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -6.783e-1

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 2682
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018867924528302e-5
allele num: 66250
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

FS
type: SiteQuality
SIO_000300: 1.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.199e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 1.544531e6

GenotypeQuality
all individuals: 598
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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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variant carriers: 19

GenotypeQuality
all individuals: 41710
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GenotypeQuality
all individuals: 2682
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variant carriers: 0

African
type: Population
allele count: 14
allele frequency: 1.440922190201729e-3
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018867924528302e-5
allele num: 66250
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.069367710251688e-4
allele num: 6516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.188e0

DP
type: SiteQuality
SIO_000300: 1.544531e6

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509889778046203e-5
allele num: 66230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.993e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.242e0

FS
type: SiteQuality
SIO_000300: 6.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.061e1

VQSLOD
type: SiteQuality
SIO_000300: -3.504e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.107e0

DP
type: SiteQuality
SIO_000300: 1.544261e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511852926947267e-5
allele num: 66144
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8580
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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MQ
type: SiteQuality
SIO_000300: 5.733e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.078e0

MQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.539787e6

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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
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: 66114
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8576
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.544163063619518e-4
allele num: 6476
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1369
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515381118351265e-5
allele num: 65990
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.115e0

DP
type: SiteQuality
SIO_000300: 1.53388e6

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
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GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8136
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.061157074885596e-5
allele num: 65994
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21447656060238e-4
allele num: 16468
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

QD
type: SiteQuality
SIO_000300: 1.162e1

FS
type: SiteQuality
SIO_000300: 2.88e0

DP
type: SiteQuality
SIO_000300: 1.533697e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

GenotypeQuality
all individuals: 343
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35542
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536192700012289e-5
allele num: 65096
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

VQSLOD
type: SiteQuality
SIO_000300: 4.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.480245e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.94e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 871
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3753
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2249
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 188
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 7451
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1919
bin: 9.75e1
variant carriers: 594

GenotypeQuality
all individuals: 2501
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33677
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 633
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1309
bin: 8.25e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.453557658604977e-3
allele num: 11412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.230529595015576e-5
allele num: 16050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.312816084864932e-4
allele num: 64856
num of homozygotes: 0

African
type: Population
allele count: 585
allele frequency: 6.198347107438017e-2
allele num: 9438
num of homozygotes: 19

Other
type: Population
allele count: 2
allele frequency: 2.320185614849188e-3
allele num: 862
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.438e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.75e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

DP
type: SiteQuality
SIO_000300: 1.480294e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 589
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
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variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540927021696253e-5
allele num: 64896
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.471393e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

FS
type: SiteQuality
SIO_000300: 2.607e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeQuality
all individuals: 1179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 235
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 628
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variant carriers: 0

GenotypeQuality
all individuals: 2263
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variant carriers: 0

GenotypeQuality
all individuals: 556
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GenotypeQuality
all individuals: 7444
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variant carriers: 0

GenotypeQuality
all individuals: 4382
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variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 882
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variant carriers: 0

GenotypeQuality
all individuals: 599
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variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175917215428034e-4
allele num: 8504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.354e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e0

DP
type: SiteQuality
SIO_000300: 1.454177e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.699e0

FS
type: SiteQuality
SIO_000300: 3.078e0

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

MQ
type: SiteQuality
SIO_000300: 5.838e1

QD
type: SiteQuality
SIO_000300: 9.75e0

GenotypeQuality
all individuals: 880
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
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variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15800
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.355157795572303e-4
allele num: 8492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64326
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.524e0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.446137e6

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

GenotypeQuality
all individuals: 7200
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 577
bin: 8.75e1
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GenotypeQuality
all individuals: 2455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 5.75e1
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GenotypeQuality
all individuals: 1329
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5008
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9210
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561085266477255e-5
allele num: 64058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 5.432e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.515e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

DP
type: SiteQuality
SIO_000300: 1.432131e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

GenotypeQuality
all individuals: 2416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1937
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7111
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27633
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 7.658643326039387e-4
allele num: 9140
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.964e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 1.373e1

DP
type: SiteQuality
SIO_000300: 1.415619e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
SIO_000300: 1.6803e1

GenotypeQuality
all individuals: 228
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 573
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27012
bin: 6.25e1
variant carriers: 0

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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bin: 1.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.581527755812114e-5
allele num: 63230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.475e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.662e1

FS
type: SiteQuality
SIO_000300: 2.077e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 7.45e0

DP
type: SiteQuality
SIO_000300: 1.408503e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181195369714151e-4
allele num: 8466
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.585037248375337e-5
allele num: 63090
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 7.57e0

VQSLOD
type: SiteQuality
SIO_000300: -6.022e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.410731e6

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8954
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.567713122290818e-5
allele num: 15226
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.412e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.406622e6

FS
type: SiteQuality
SIO_000300: 5.704e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

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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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63094
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.824567596187787e-5
allele num: 11332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.406397e6

QD
type: SiteQuality
SIO_000300: 1.114e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.346e0

MQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.242e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.755e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.329256945367539e-4
allele num: 15046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.44e0

DP
type: SiteQuality
SIO_000300: 1.399537e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 8.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.586e0

VQSLOD
type: SiteQuality
SIO_000300: -2.255e-1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62528
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.837044892188053e-5
allele num: 11316
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.076e1

MQRankSum
type: SiteQuality
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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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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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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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variant carriers: 5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.39877143588431e-5
allele num: 62512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
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allele frequency: 0.0e0
allele num: 820
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African
type: Population
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allele frequency: 1.140510948905109e-4
allele num: 8768
num of homozygotes: 0

South Asian
type: Population
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Latino
type: Population
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allele frequency: 1.510305614783227e-3
allele num: 11256
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62340
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 820
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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: 11298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.119426853451033e-4
allele num: 62532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: -3.773e-1

DP
type: SiteQuality
SIO_000300: 1.385211e6

FS
type: SiteQuality
SIO_000300: 7.553e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.293e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

QD
type: SiteQuality
SIO_000300: 1.017e1

GenotypeQuality
all individuals: 262
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600717121270329e-5
allele num: 62472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.549e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.199e0

FS
type: SiteQuality
SIO_000300: 2.292e0

QD
type: SiteQuality
SIO_000300: 1.676e1

DP
type: SiteQuality
SIO_000300: 1.382624e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.356e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 711
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GenotypeQuality
all individuals: 1993
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 1.796e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.378545e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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
all individuals: 1206
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GenotypeQuality
all individuals: 813
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604724308363823e-5
allele num: 62316
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.133272892112421e-4
allele num: 8824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14088
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 2.506e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

DP
type: SiteQuality
SIO_000300: 1.377621e6

GenotypeQuality
all individuals: 174
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variant carriers: 0

GenotypeQuality
all individuals: 1355
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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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variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.871540099361249e-5
allele num: 11272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62270
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.13455865668255e-4
allele num: 8814
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.376547e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
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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variant carriers: 4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13214
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.541291905151267e-5
allele num: 61150
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

DP
type: SiteQuality
SIO_000300: 1.357516e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-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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bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13138
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.783803068141277e-4
allele num: 11212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632386549134835e-5
allele num: 61260
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 9.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

DP
type: SiteQuality
SIO_000300: 1.355845e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5684
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 1
allele frequency: 1.188777936281503e-4
allele num: 8412
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VQSLOD
type: SiteQuality
SIO_000300: -1.427e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.804e1

FS
type: SiteQuality
SIO_000300: 6.301e0

DP
type: SiteQuality
SIO_000300: 1.351875e6

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
all individuals: 619
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187648456057007e-4
allele num: 8420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632919660352711e-5
allele num: 61240
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.352755e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.317e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.289e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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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
all individuals: 621
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GenotypeQuality
all individuals: 2364
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632759690428763e-5
allele num: 61246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.354329e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.553e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

QD
type: SiteQuality
SIO_000300: 1.334e1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

GenotypeQuality
all individuals: 629
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.782848992690319e-4
allele num: 11218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61206
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.879e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 6.859e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.162e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

DP
type: SiteQuality
SIO_000300: 1.354132e6

MQ
type: SiteQuality
SIO_000300: 5.875e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.47e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6695
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12678
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.633986928104575e-5
allele num: 61200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 8.862e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 1.362014e6

VQSLOD
type: SiteQuality
SIO_000300: -4.51e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeQuality
all individuals: 1039
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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
all individuals: 1354
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variant carriers: 1

GenotypeQuality
all individuals: 6752
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.956715467854869e-5
allele num: 12568
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

FS
type: SiteQuality
SIO_000300: 1.447e0

DP
type: SiteQuality
SIO_000300: 1.366319e6

VQSLOD
type: SiteQuality
SIO_000300: -8.237e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.502e1

MQ
type: SiteQuality
SIO_000300: 5.87e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.393e0

GenotypeQuality
all individuals: 1986
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1375
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 2798
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.93733681462141e-4
allele num: 61280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.368477e6

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 1.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 179
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1370
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variant carriers: 1

GenotypeQuality
all individuals: 26821
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6869
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variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632599751844838e-5
allele num: 61252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

DP
type: SiteQuality
SIO_000300: 1.376192e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

QD
type: SiteQuality
SIO_000300: 1.325e1

FS
type: SiteQuality
SIO_000300: 4.666e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.614465611882467e-4
allele num: 12388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61332
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.380032e6

MQRankSum
type: SiteQuality
SIO_000300: -1.2e0

FS
type: SiteQuality
SIO_000300: 2.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.131e0

QD
type: SiteQuality
SIO_000300: 1.43e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.297378028542981e-5
allele num: 12052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61530
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.804e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.264e0

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.596e0

QD
type: SiteQuality
SIO_000300: 1.074e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1659
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GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.274277916761428e-4
allele num: 8794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

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: 11308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620640477116556e-5
allele num: 61704
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.968e0

FS
type: SiteQuality
SIO_000300: 8.61e-1

QD
type: SiteQuality
SIO_000300: 1.562e1

DP
type: SiteQuality
SIO_000300: 1.413621e6

GenotypeQuality
all individuals: 124
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 810
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615300122762809e-5
allele num: 61908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

FS
type: SiteQuality
SIO_000300: 2.077e0

QD
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

DP
type: SiteQuality
SIO_000300: 1.430366e6

MQ
type: SiteQuality
SIO_000300: 6.0e1