3-9512101-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512101
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512099
    reference: chr 3
allele count: 3
allele frequency: 2.685284640171858e-5
allele num: 111720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2782-39_2782-38delTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1229-39_*1229-38delTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2431-39_2431-38delTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.716-39_716-38delTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2725-39_2725-38delTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2431-39_2431-38delTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1727-39_1727-38delTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2725-39_2725-38delTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2889-39_2889-38delTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2066-39_2066-38delTC
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: TTC
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-9512105-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512105
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512105
    reference: chr 3
allele count: 1
allele frequency: 8.943423900406031e-6
allele num: 111814
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2725-38C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2782-38C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2889-38C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2725-38C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1727-38C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1229-38C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2066-38C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.716-38C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2431-38C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2431-38C>A
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/3-9512112-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512112
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512112
    reference: chr 3
allele count: 14
allele frequency: 1.246216841730461e-4
allele num: 112340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2889-31C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2066-31C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2725-31C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1727-31C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2725-31C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2431-31C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2431-31C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1229-31C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2782-31C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.716-31C>A
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-9512113-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512113
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512113
    reference: chr 3
allele count: 14
allele frequency: 1.245108502312344e-4
allele num: 112440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2431-30C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2725-30C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.716-30C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1727-30C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2725-30C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2431-30C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2066-30C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2782-30C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2889-30C>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1229-30C>A
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

3-9512122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512122
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512122
    reference: chr 3
allele count: 7
allele frequency: 6.183199364013779e-5
allele num: 113210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2782-21C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2431-21C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2066-21C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2431-21C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2725-21C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1727-21C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2889-21C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2725-21C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1229-21C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.716-21C>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-9512123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512123
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512123
    reference: chr 3
allele count: 5
allele frequency: 4.407305549679148e-5
allele num: 113448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2725-20G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2066-20G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2782-20G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2889-20G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2725-20G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1727-20G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1229-20G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2431-20G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.716-20G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2431-20G>A
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-9512124-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512124
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512124
    reference: chr 3
allele count: 1
allele frequency: 8.802351988451315e-6
allele num: 113606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2066-19T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.716-19T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1727-19T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1229-19T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2725-19T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2431-19T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2889-19T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2782-19T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2725-19T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2431-19T>C
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-9512127-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512127
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512127
    reference: chr 3
allele count: 1
allele frequency: 8.768391701594093e-6
allele num: 114046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2066-16A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1727-16A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2889-16A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2725-16A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2782-16A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2431-16A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1229-16A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2725-16A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.716-16A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2431-16A>G
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

3-9512133-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512133
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512133
    reference: chr 3
allele count: 2
allele frequency: 1.74103800685969e-5
allele num: 114874
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1727-10A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2431-10A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2725-10A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1229-10A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2782-10A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2431-10A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.716-10A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2725-10A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2066-10A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2889-10A>G
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

3-9512133-ATTCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512133
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512129
    reference: chr 3
allele count: 1
allele frequency: 8.705190034298448e-6
allele num: 114874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2066-6_2066-3delTTTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2725-6_2725-3delTTTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1727-6_1727-3delTTTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2782-6_2782-3delTTTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2431-6_2431-3delTTTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.716-6_716-3delTTTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1229-6_*1229-3delTTTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2431-6_2431-3delTTTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2725-6_2725-3delTTTC
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2889-6_2889-3delTTTC
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2725-6_2725-3delTTTC
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: ATTCT
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

3-9512153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512153
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512153
    reference: chr 3
allele count: 3
allele frequency: 2.521728897332011e-5
allele num: 118966
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2735G>A
  hgvsp: ENSP00000385852.1:p.Arg912Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2792G>A
  hgvsp: ENSP00000384114.1:p.Arg931Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1239G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2441G>A
  hgvsp: ENSP00000384429.1:p.Arg814Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2441G>A
  hgvsp: ENSP00000302028.6:p.Arg814Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.726G>A
  hgvsp: ENSP00000399993.1:p.Arg243Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2899G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2735G>A
  hgvsp: ENSP00000383939.1:p.Arg912Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1737G>A
  hgvsp: ENSP00000382593.2:p.Arg580Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2076G>A
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7033
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg912Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-9512154-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512154
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512154
    reference: chr 3
allele count: 1
allele frequency: 8.39278220730172e-6
allele num: 119150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2793A>G
  hgvsp: ENST00000407969.1:c.2793A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2736A>G
  hgvsp: ENST00000402198.1:c.2736A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1240A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1738A>G
  hgvsp: ENST00000399686.2:c.1738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2442A>G
  hgvsp: ENST00000402466.1:c.2442A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2900A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.727A>G
  hgvsp: ENST00000421188.1:c.727A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2077A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2736A>G
  hgvsp: ENST00000406341.1:c.2736A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2442A>G
  hgvsp: ENST00000302463.6:c.2442A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg912Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-9512164-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512164
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512164
    reference: chr 3
allele count: 1
allele frequency: 8.331250520703158e-6
allele num: 120030
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2746G>T
  hgvsp: ENSP00000385852.1:p.Asp916Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1748G>T
  hgvsp: ENSP00000382593.2:p.Asp584Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2746G>T
  hgvsp: ENSP00000383939.1:p.Asp916Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.737G>T
  hgvsp: ENSP00000399993.1:p.Asp247Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2803G>T
  hgvsp: ENSP00000384114.1:p.Asp935Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2910G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2452G>T
  hgvsp: ENSP00000384429.1:p.Asp818Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2452G>T
  hgvsp: ENSP00000302028.6:p.Asp818Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1250G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2087G>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp916Tyr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-9512182-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512182
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512182
    reference: chr 3
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2764T>C
  hgvsp: ENSP00000383939.1:p.Tyr922His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2105T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1268T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2764T>C
  hgvsp: ENSP00000385852.1:p.Tyr922His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2821T>C
  hgvsp: ENSP00000384114.1:p.Tyr941His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1766T>C
  hgvsp: ENSP00000382593.2:p.Tyr590His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2928T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.755T>C
  hgvsp: ENSP00000399993.1:p.Tyr253His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2470T>C
  hgvsp: ENSP00000302028.6:p.Tyr824His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2470T>C
  hgvsp: ENSP00000384429.1:p.Tyr824His
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr922His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-9512183-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512183
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512183
    reference: chr 3
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2471A>T
  hgvsp: ENSP00000302028.6:p.Tyr824Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2929A>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2822A>T
  hgvsp: ENSP00000384114.1:p.Tyr941Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1767A>T
  hgvsp: ENSP00000382593.2:p.Tyr590Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2471A>T
  hgvsp: ENSP00000384429.1:p.Tyr824Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2106A>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2765A>T
  hgvsp: ENSP00000383939.1:p.Tyr922Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.756A>T
  hgvsp: ENSP00000399993.1:p.Tyr253Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2765A>T
  hgvsp: ENSP00000385852.1:p.Tyr922Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1269A>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr922Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

3-9512184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512184
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512184
    reference: chr 3
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2107C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1768C>T
  hgvsp: ENST00000399686.2:c.1768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2823C>T
  hgvsp: ENST00000407969.1:c.2823C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2766C>T
  hgvsp: ENST00000406341.1:c.2766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.757C>T
  hgvsp: ENST00000421188.1:c.757C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1270C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2766C>T
  hgvsp: ENST00000402198.1:c.2766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2472C>T
  hgvsp: ENST00000402466.1:c.2472C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2472C>T
  hgvsp: ENST00000302463.6:c.2472C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2930C>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr922Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-9512186-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512186
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512186
    reference: chr 3
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1272T>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2474T>G
  hgvsp: ENSP00000384429.1:p.Leu825Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.759T>G
  hgvsp: ENSP00000399993.1:p.Leu254Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2768T>G
  hgvsp: ENSP00000385852.1:p.Leu923Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2932T>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2768T>G
  hgvsp: ENSP00000383939.1:p.Leu923Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2109T>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1770T>G
  hgvsp: ENSP00000382593.2:p.Leu591Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2825T>G
  hgvsp: ENSP00000384114.1:p.Leu942Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2474T>G
  hgvsp: ENSP00000302028.6:p.Leu825Arg
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu923Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

3-9512187-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512187
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512187
    reference: chr 3
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2826T>C
  hgvsp: ENST00000407969.1:c.2826T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2769T>C
  hgvsp: ENST00000406341.1:c.2769T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2475T>C
  hgvsp: ENST00000402466.1:c.2475T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1273T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2769T>C
  hgvsp: ENST00000402198.1:c.2769T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2475T>C
  hgvsp: ENST00000302463.6:c.2475T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.760T>C
  hgvsp: ENST00000421188.1:c.760T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2110T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2933T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1771T>C
  hgvsp: ENST00000399686.2:c.1771T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7146
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu923Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

3-9512192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512192
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512192
    reference: chr 3
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1776C>T
  hgvsp: ENSP00000382593.2:p.Ser593Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.765C>T
  hgvsp: ENSP00000399993.1:p.Ser256Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2774C>T
  hgvsp: ENSP00000385852.1:p.Ser925Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2774C>T
  hgvsp: ENSP00000383939.1:p.Ser925Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1278C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2480C>T
  hgvsp: ENSP00000384429.1:p.Ser827Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2480C>T
  hgvsp: ENSP00000302028.6:p.Ser827Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2831C>T
  hgvsp: ENSP00000384114.1:p.Ser944Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2115C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2938C>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser925Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/3-9512195-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512195
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512195
    reference: chr 3
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2777A>C
  hgvsp: ENSP00000385852.1:p.Asn926Thr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2941A>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2483A>C
  hgvsp: ENSP00000384429.1:p.Asn828Thr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1281A>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2483A>C
  hgvsp: ENSP00000302028.6:p.Asn828Thr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2777A>C
  hgvsp: ENSP00000383939.1:p.Asn926Thr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.768A>C
  hgvsp: ENSP00000399993.1:p.Asn257Thr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2834A>C
  hgvsp: ENSP00000384114.1:p.Asn945Thr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2118A>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1779A>C
  hgvsp: ENSP00000382593.2:p.Asn594Thr
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn926Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

3-9512196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512196
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512196
    reference: chr 3
allele count: 3
allele frequency: 2.484760137821362e-5
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1780C>T
  hgvsp: ENST00000399686.2:c.1780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.769C>T
  hgvsp: ENST00000421188.1:c.769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2484C>T
  hgvsp: ENST00000302463.6:c.2484C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2778C>T
  hgvsp: ENST00000402198.1:c.2778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2778C>T
  hgvsp: ENST00000406341.1:c.2778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2484C>T
  hgvsp: ENST00000402466.1:c.2484C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2835C>T
  hgvsp: ENST00000407969.1:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2942C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2119C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1282C>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20101
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn926Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-9512207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512207
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512207
    reference: chr 3
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1293G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2130G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2495G>A
  hgvsp: ENSP00000302028.6:p.Cys832Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2789G>A
  hgvsp: ENSP00000385852.1:p.Cys930Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2846G>A
  hgvsp: ENSP00000384114.1:p.Cys949Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2495G>A
  hgvsp: ENSP00000384429.1:p.Cys832Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2953G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1791G>A
  hgvsp: ENSP00000382593.2:p.Cys598Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2789G>A
  hgvsp: ENSP00000383939.1:p.Cys930Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.780G>A
  hgvsp: ENSP00000399993.1:p.Cys261Tyr
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys930Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS

3-9512226-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512226
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512226
    reference: chr 3
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1312A>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2972A>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1810A>T
  hgvsp: ENST00000399686.2:c.1810A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2149A>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2514A>T
  hgvsp: ENST00000302463.6:c.2514A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2808A>T
  hgvsp: ENST00000402198.1:c.2808A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.799A>T
  hgvsp: ENST00000421188.1:c.799A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2514A>T
  hgvsp: ENST00000402466.1:c.2514A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2865A>T
  hgvsp: ENST00000407969.1:c.2865A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2808A>T
  hgvsp: ENST00000406341.1:c.2808A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu936Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-9512236-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512236
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512236
    reference: chr 3
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2524G>C
  hgvsp: ENSP00000384429.1:p.Gly842Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1820G>C
  hgvsp: ENSP00000382593.2:p.Gly608Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2524G>C
  hgvsp: ENSP00000302028.6:p.Gly842Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2982G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2818G>C
  hgvsp: ENSP00000385852.1:p.Gly940Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2875G>C
  hgvsp: ENSP00000384114.1:p.Gly959Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.809G>C
  hgvsp: ENSP00000399993.1:p.Gly271Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2818G>C
  hgvsp: ENSP00000383939.1:p.Gly940Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2159G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1322G>C
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly940Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-9512237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512237
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512237
    reference: chr 3
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2525G>A
  hgvsp: ENSP00000384429.1:p.Gly842Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2876G>A
  hgvsp: ENSP00000384114.1:p.Gly959Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2819G>A
  hgvsp: ENSP00000383939.1:p.Gly940Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.810G>A
  hgvsp: ENSP00000399993.1:p.Gly271Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2525G>A
  hgvsp: ENSP00000302028.6:p.Gly842Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2160G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2819G>A
  hgvsp: ENSP00000385852.1:p.Gly940Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1323G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2983G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1821G>A
  hgvsp: ENSP00000382593.2:p.Gly608Asp
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly940Asp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

3-9512240-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512240
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512240
    reference: chr 3
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.813A>G
  hgvsp: ENSP00000399993.1:p.His272Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2528A>G
  hgvsp: ENSP00000302028.6:p.His843Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2822A>G
  hgvsp: ENSP00000385852.1:p.His941Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2822A>G
  hgvsp: ENSP00000383939.1:p.His941Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2528A>G
  hgvsp: ENSP00000384429.1:p.His843Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2879A>G
  hgvsp: ENSP00000384114.1:p.His960Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.2986A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1326A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2163A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1824A>G
  hgvsp: ENSP00000382593.2:p.His609Arg
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His941Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

3-9512257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512257
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512257
    reference: chr 3
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2839C>T
  hgvsp: ENSP00000385852.1:p.His947Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2545C>T
  hgvsp: ENSP00000384429.1:p.His849Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2839C>T
  hgvsp: ENSP00000383939.1:p.His947Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1841C>T
  hgvsp: ENSP00000382593.2:p.His615Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2545C>T
  hgvsp: ENSP00000302028.6:p.His849Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2896C>T
  hgvsp: ENSP00000384114.1:p.His966Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.830C>T
  hgvsp: ENSP00000399993.1:p.His278Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2180C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1343C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3003C>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46563
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His947Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

3-9512264-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512264
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512264
    reference: chr 3
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2846C>T
  hgvsp: ENSP00000385852.1:p.Ser949Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.837C>T
  hgvsp: ENSP00000399993.1:p.Ser280Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2903C>T
  hgvsp: ENSP00000384114.1:p.Ser968Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1350C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2552C>T
  hgvsp: ENSP00000384429.1:p.Ser851Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2552C>T
  hgvsp: ENSP00000302028.6:p.Ser851Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1848C>T
  hgvsp: ENSP00000382593.2:p.Ser617Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2187C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2846C>T
  hgvsp: ENSP00000383939.1:p.Ser949Phe
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3010C>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser949Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

3-9512267-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512267
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512267
    reference: chr 3
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2849T>C
  hgvsp: ENSP00000385852.1:p.Leu950Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1353T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1851T>C
  hgvsp: ENSP00000382593.2:p.Leu618Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2190T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2849T>C
  hgvsp: ENSP00000383939.1:p.Leu950Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2555T>C
  hgvsp: ENSP00000384429.1:p.Leu852Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2906T>C
  hgvsp: ENSP00000384114.1:p.Leu969Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.840T>C
  hgvsp: ENSP00000399993.1:p.Leu281Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2555T>C
  hgvsp: ENSP00000302028.6:p.Leu852Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3013T>C
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu950Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-9512268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512268
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512268
    reference: chr 3
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1354C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2191C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2850C>T
  hgvsp: ENST00000406341.1:c.2850C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2556C>T
  hgvsp: ENST00000302463.6:c.2556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3014C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2850C>T
  hgvsp: ENST00000402198.1:c.2850C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1852C>T
  hgvsp: ENST00000399686.2:c.1852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2556C>T
  hgvsp: ENST00000402466.1:c.2556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2907C>T
  hgvsp: ENST00000407969.1:c.2907C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.841C>T
  hgvsp: ENST00000421188.1:c.841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu950Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

3-9512269-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512269
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512269
    reference: chr 3
allele count: 2
allele frequency: 1.656122685568547e-5
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1853G>C
  hgvsp: ENSP00000382593.2:p.Gly619Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2851G>C
  hgvsp: ENSP00000385852.1:p.Gly951Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3015G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.842G>C
  hgvsp: ENSP00000399993.1:p.Gly282Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2192G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2557G>C
  hgvsp: ENSP00000384429.1:p.Gly853Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2557G>C
  hgvsp: ENSP00000302028.6:p.Gly853Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2851G>C
  hgvsp: ENSP00000383939.1:p.Gly951Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1355G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2908G>C
  hgvsp: ENSP00000384114.1:p.Gly970Arg
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly951Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

3-9512269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512269
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512269
    reference: chr 3
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.842G>A
  hgvsp: ENSP00000399993.1:p.Gly282Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2851G>A
  hgvsp: ENSP00000383939.1:p.Gly951Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3015G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1853G>A
  hgvsp: ENSP00000382593.2:p.Gly619Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1355G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2851G>A
  hgvsp: ENSP00000385852.1:p.Gly951Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2557G>A
  hgvsp: ENSP00000384429.1:p.Gly853Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2557G>A
  hgvsp: ENSP00000302028.6:p.Gly853Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2192G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2908G>A
  hgvsp: ENSP00000384114.1:p.Gly970Arg
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46569
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly951Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ

3-9512284-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512284
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512284
    reference: chr 3
allele count: 11
allele frequency: 9.1089764822789e-5
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2866A>T
  hgvsp: ENSP00000385852.1:p.Thr956Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3030A>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1370A>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2923A>T
  hgvsp: ENSP00000384114.1:p.Thr975Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2572A>T
  hgvsp: ENSP00000302028.6:p.Thr858Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2572A>T
  hgvsp: ENSP00000384429.1:p.Thr858Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2207A>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1868A>T
  hgvsp: ENSP00000382593.2:p.Thr624Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.857A>T
  hgvsp: ENSP00000399993.1:p.Thr287Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2866A>T
  hgvsp: ENSP00000383939.1:p.Thr956Ser
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr956Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

3-9512294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512294
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512294
    reference: chr 3
allele count: 4
allele frequency: 3.312300226892566e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1380C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2876C>T
  hgvsp: ENSP00000385852.1:p.Pro959Leu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2876C>T
  hgvsp: ENSP00000383939.1:p.Pro959Leu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2933C>T
  hgvsp: ENSP00000384114.1:p.Pro978Leu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.867C>T
  hgvsp: ENSP00000399993.1:p.Pro290Leu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3040C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2582C>T
  hgvsp: ENSP00000302028.6:p.Pro861Leu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2582C>T
  hgvsp: ENSP00000384429.1:p.Pro861Leu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2217C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1878C>T
  hgvsp: ENSP00000382593.2:p.Pro627Leu
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro959Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-9512309-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512309
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512309
    reference: chr 3
allele count: 3
allele frequency: 2.484142887898912e-5
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2597A>G
  hgvsp: ENSP00000302028.6:p.Asp866Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2891A>G
  hgvsp: ENSP00000385852.1:p.Asp964Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3055A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1395A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2948A>G
  hgvsp: ENSP00000384114.1:p.Asp983Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2597A>G
  hgvsp: ENSP00000384429.1:p.Asp866Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2891A>G
  hgvsp: ENSP00000383939.1:p.Asp964Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2232A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1893A>G
  hgvsp: ENSP00000382593.2:p.Asp632Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.882A>G
  hgvsp: ENSP00000399993.1:p.Asp295Gly
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46589
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp964Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-9512313-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512313
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512313
    reference: chr 3
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2952A>G
  hgvsp: ENST00000407969.1:c.2952A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1399A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.886A>G
  hgvsp: ENST00000421188.1:c.886A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2895A>G
  hgvsp: ENST00000406341.1:c.2895A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1897A>G
  hgvsp: ENST00000399686.2:c.1897A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2601A>G
  hgvsp: ENST00000402466.1:c.2601A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2895A>G
  hgvsp: ENST00000402198.1:c.2895A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2236A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3059A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2601A>G
  hgvsp: ENST00000302463.6:c.2601A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly965Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-9512314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512314
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512314
    reference: chr 3
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1898C>T
  hgvsp: ENSP00000382593.2:p.His634Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.887C>T
  hgvsp: ENSP00000399993.1:p.His297Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2237C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1400C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2953C>T
  hgvsp: ENSP00000384114.1:p.His985Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3060C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2896C>T
  hgvsp: ENSP00000383939.1:p.His966Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2602C>T
  hgvsp: ENSP00000384429.1:p.His868Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2896C>T
  hgvsp: ENSP00000385852.1:p.His966Tyr
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2602C>T
  hgvsp: ENSP00000302028.6:p.His868Tyr
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His966Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

3-9512325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512325
    reference: chr 3
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1411C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2613C>T
  hgvsp: ENST00000402466.1:c.2613C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2907C>T
  hgvsp: ENST00000402198.1:c.2907C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2907C>T
  hgvsp: ENST00000406341.1:c.2907C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2964C>T
  hgvsp: ENST00000407969.1:c.2964C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2248C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2613C>T
  hgvsp: ENST00000302463.6:c.2613C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.898C>T
  hgvsp: ENST00000421188.1:c.898C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1909C>T
  hgvsp: ENST00000399686.2:c.1909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3071C>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu969Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-9512326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512326
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512326
    reference: chr 3
allele count: 8
allele frequency: 6.624490742274187e-5
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2965G>A
  hgvsp: ENSP00000384114.1:p.Val989Met
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2249G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2614G>A
  hgvsp: ENSP00000302028.6:p.Val872Met
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2908G>A
  hgvsp: ENSP00000383939.1:p.Val970Met
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.899G>A
  hgvsp: ENSP00000399993.1:p.Val301Met
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2908G>A
  hgvsp: ENSP00000385852.1:p.Val970Met
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1910G>A
  hgvsp: ENSP00000382593.2:p.Val638Met
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3072G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2614G>A
  hgvsp: ENSP00000384429.1:p.Val872Met
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1412G>A
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val970Met
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-9512328-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512328
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512328
    reference: chr 3
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1414G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2910G>T
  hgvsp: ENST00000402198.1:c.2910G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2251G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2616G>T
  hgvsp: ENST00000302463.6:c.2616G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2910G>T
  hgvsp: ENST00000406341.1:c.2910G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2616G>T
  hgvsp: ENST00000402466.1:c.2616G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.901G>T
  hgvsp: ENST00000421188.1:c.901G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1912G>T
  hgvsp: ENST00000399686.2:c.1912G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2967G>T
  hgvsp: ENST00000407969.1:c.2967G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3074G>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46601
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val970Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

3-9512342-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512342
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512342
    reference: chr 3
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1926A>G
  hgvsp: ENSP00000382593.2:p.Gln643Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2630A>G
  hgvsp: ENSP00000302028.6:p.Gln877Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.915A>G
  hgvsp: ENSP00000399993.1:p.Gln306Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2924A>G
  hgvsp: ENSP00000383939.1:p.Gln975Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2630A>G
  hgvsp: ENSP00000384429.1:p.Gln877Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2981A>G
  hgvsp: ENSP00000384114.1:p.Gln994Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3088A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1428A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2265A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2924A>G
  hgvsp: ENSP00000385852.1:p.Gln975Arg
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln975Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-9512345-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512345
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512345
    reference: chr 3
allele count: 100
allele frequency: 8.280476292996373e-4
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2927C>G
  hgvsp: ENSP00000383939.1:p.Ala976Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2268C>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2633C>G
  hgvsp: ENSP00000384429.1:p.Ala878Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2633C>G
  hgvsp: ENSP00000302028.6:p.Ala878Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2927C>G
  hgvsp: ENSP00000385852.1:p.Ala976Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.918C>G
  hgvsp: ENSP00000399993.1:p.Ala307Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1431C>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2984C>G
  hgvsp: ENSP00000384114.1:p.Ala995Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1929C>G
  hgvsp: ENSP00000382593.2:p.Ala644Gly
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3091C>G
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala976Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-9512350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512350
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512350
    reference: chr 3
allele count: 10
allele frequency: 8.280750567231414e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1934C>T
  hgvsp: ENSP00000382593.2:p.Arg646Trp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2638C>T
  hgvsp: ENSP00000302028.6:p.Arg880Trp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3096C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2932C>T
  hgvsp: ENSP00000383939.1:p.Arg978Trp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2932C>T
  hgvsp: ENSP00000385852.1:p.Arg978Trp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1436C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2638C>T
  hgvsp: ENSP00000384429.1:p.Arg880Trp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2989C>T
  hgvsp: ENSP00000384114.1:p.Arg997Trp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2273C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.923C>T
  hgvsp: ENSP00000399993.1:p.Arg309Trp
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg978Trp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

3-9512351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512351
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512351
    reference: chr 3
allele count: 4
allele frequency: 3.312300226892566e-5
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1935G>A
  hgvsp: ENSP00000382593.2:p.Arg646Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.1G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2933G>A
  hgvsp: ENSP00000385852.1:p.Arg978Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2933G>A
  hgvsp: ENSP00000383939.1:p.Arg978Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2274G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2639G>A
  hgvsp: ENSP00000384429.1:p.Arg880Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2990G>A
  hgvsp: ENSP00000384114.1:p.Arg997Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3097G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.924G>A
  hgvsp: ENSP00000399993.1:p.Arg309Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2639G>A
  hgvsp: ENSP00000302028.6:p.Arg880Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1437G>A
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg978Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-9512353-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512353
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512353
    reference: chr 3
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.3A>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.926A>T
  hgvsp: ENSP00000399993.1:p.Thr310Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1439A>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2276A>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2935A>T
  hgvsp: ENSP00000385852.1:p.Thr979Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2935A>T
  hgvsp: ENSP00000383939.1:p.Thr979Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2641A>T
  hgvsp: ENSP00000384429.1:p.Thr881Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2641A>T
  hgvsp: ENSP00000302028.6:p.Thr881Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1937A>T
  hgvsp: ENSP00000382593.2:p.Thr647Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.2992A>T
  hgvsp: ENSP00000384114.1:p.Thr998Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3099A>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr979Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-9512378-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512378
    reference: chr 3
allele count: 5
allele frequency: 4.140306713921367e-5
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2666A>G
  hgvsp: ENSP00000302028.6:p.Tyr889Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2666A>G
  hgvsp: ENSP00000384429.1:p.Tyr889Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.951A>G
  hgvsp: ENSP00000399993.1:p.Tyr318Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3017A>G
  hgvsp: ENSP00000384114.1:p.Tyr1006Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2301A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1464A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2960A>G
  hgvsp: ENSP00000385852.1:p.Tyr987Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3124A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.28A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2960A>G
  hgvsp: ENSP00000383939.1:p.Tyr987Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1962A>G
  hgvsp: ENSP00000382593.2:p.Tyr655Cys
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr987Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-9512390-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512390
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512390
    reference: chr 3
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2972A>G
  hgvsp: ENSP00000385852.1:p.Asn991Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2678A>G
  hgvsp: ENSP00000384429.1:p.Asn893Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1974A>G
  hgvsp: ENSP00000382593.2:p.Asn659Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3029A>G
  hgvsp: ENSP00000384114.1:p.Asn1010Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2678A>G
  hgvsp: ENSP00000302028.6:p.Asn893Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2972A>G
  hgvsp: ENSP00000383939.1:p.Asn991Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3136A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.963A>G
  hgvsp: ENSP00000399993.1:p.Asn322Ser
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.40A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1476A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2313A>G
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn991Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-9512395-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512395
    reference: chr 3
allele count: 10
allele frequency: 8.283082632032337e-5
allele num: 120728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2318A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.968A>G
  hgvsp: ENSP00000399993.1:p.Met324Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2977A>G
  hgvsp: ENSP00000385852.1:p.Met993Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2977A>G
  hgvsp: ENSP00000383939.1:p.Met993Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2683A>G
  hgvsp: ENSP00000384429.1:p.Met895Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3141A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1979A>G
  hgvsp: ENSP00000382593.2:p.Met661Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.45A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3034A>G
  hgvsp: ENSP00000384114.1:p.Met1012Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1481A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2683A>G
  hgvsp: ENSP00000302028.6:p.Met895Val
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met993Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

3-9512397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512397
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512397
    reference: chr 3
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2320G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.47G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.970G>A
  hgvsp: ENSP00000399993.1:p.Met324Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3143G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1483G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3036G>A
  hgvsp: ENSP00000384114.1:p.Met1012Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2979G>A
  hgvsp: ENSP00000383939.1:p.Met993Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2979G>A
  hgvsp: ENSP00000385852.1:p.Met993Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2685G>A
  hgvsp: ENSP00000384429.1:p.Met895Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1981G>A
  hgvsp: ENSP00000382593.2:p.Met661Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2685G>A
  hgvsp: ENSP00000302028.6:p.Met895Ile
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met993Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-9512415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512415
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512415
    reference: chr 3
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2338G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3054G>A
  hgvsp: ENST00000407969.1:c.3054G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1501G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2703G>A
  hgvsp: ENST00000302463.6:c.2703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2703G>A
  hgvsp: ENST00000402466.1:c.2703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3161G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.65G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.2997G>A
  hgvsp: ENST00000406341.1:c.2997G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.988G>A
  hgvsp: ENST00000421188.1:c.988G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.1999G>A
  hgvsp: ENST00000399686.2:c.1999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.2997G>A
  hgvsp: ENST00000402198.1:c.2997G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu999Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-9512420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512420
    reference: chr 3
allele count: 6
allele frequency: 4.976527379194798e-5
allele num: 120566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1506G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3002G>A
  hgvsp: ENSP00000383939.1:p.Arg1001Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2708G>A
  hgvsp: ENSP00000384429.1:p.Arg903Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3059G>A
  hgvsp: ENSP00000384114.1:p.Arg1020Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.993G>A
  hgvsp: ENSP00000399993.1:p.Arg332Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2004G>A
  hgvsp: ENSP00000382593.2:p.Arg669Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2708G>A
  hgvsp: ENSP00000302028.6:p.Arg903Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.70G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3002G>A
  hgvsp: ENSP00000385852.1:p.Arg1001Gln
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3166G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2343G>A
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg1001Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

3-9512431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512431
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512431
    reference: chr 3
allele count: 9
allele frequency: 7.483038446188639e-5
allele num: 120272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2015C>T
  hgvsp: ENST00000399686.2:c.2015C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1004C>T
  hgvsp: ENST00000421188.1:c.1004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3177C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.81C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2719C>T
  hgvsp: ENST00000302463.6:c.2719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2719C>T
  hgvsp: ENST00000402466.1:c.2719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2354C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3013C>T
  hgvsp: ENST00000402198.1:c.3013C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3013C>T
  hgvsp: ENST00000406341.1:c.3013C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3070C>T
  hgvsp: ENST00000407969.1:c.3070C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1517C>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1005Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-9512440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512440
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512440
    reference: chr 3
allele count: 1
allele frequency: 8.349893956346754e-6
allele num: 119762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3079G>A
  hgvsp: ENSP00000384114.1:p.Asp1027Asn
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.90G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3022G>A
  hgvsp: ENSP00000383939.1:p.Asp1008Asn
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2728G>A
  hgvsp: ENSP00000384429.1:p.Asp910Asn
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1526G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1013G>A
  hgvsp: ENSP00000399993.1:p.Asp339Asn
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2024G>A
  hgvsp: ENSP00000382593.2:p.Asp676Asn
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3186G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3022G>A
  hgvsp: ENSP00000385852.1:p.Asp1008Asn
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2728G>A
  hgvsp: ENSP00000302028.6:p.Asp910Asn
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2363G>A
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1008Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

3-9512442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512442
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512442
    reference: chr 3
allele count: 7
allele frequency: 5.855486590935707e-5
allele num: 119546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2026T>C
  hgvsp: ENST00000399686.2:c.2026T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1528T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2365T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2730T>C
  hgvsp: ENST00000402466.1:c.2730T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3188T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3024T>C
  hgvsp: ENST00000406341.1:c.3024T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2730T>C
  hgvsp: ENST00000302463.6:c.2730T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3024T>C
  hgvsp: ENST00000402198.1:c.3024T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1015T>C
  hgvsp: ENST00000421188.1:c.1015T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.92T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3081T>C
  hgvsp: ENST00000407969.1:c.3081T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1008Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

3-9512456-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512456
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512456
    reference: chr 3
allele count: 1
allele frequency: 8.473570932262274e-6
allele num: 118014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3202A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2744A>G
  hgvsp: ENSP00000384429.1:p.His915Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2379A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2040A>G
  hgvsp: ENSP00000382593.2:p.His681Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.106A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3095A>G
  hgvsp: ENSP00000384114.1:p.His1032Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3038A>G
  hgvsp: ENSP00000383939.1:p.His1013Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2744A>G
  hgvsp: ENSP00000302028.6:p.His915Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1542A>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1029A>G
  hgvsp: ENSP00000399993.1:p.His344Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3038A>G
  hgvsp: ENSP00000385852.1:p.His1013Arg
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1013Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

3-9512467-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512467
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512467
    reference: chr 3
allele count: 1
allele frequency: 8.615193755707565e-6
allele num: 116074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.117G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2390G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3213G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3049G>C
  hgvsp: ENSP00000383939.1:p.Gly1017Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1040G>C
  hgvsp: ENSP00000399993.1:p.Gly348Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3049G>C
  hgvsp: ENSP00000385852.1:p.Gly1017Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2755G>C
  hgvsp: ENSP00000384429.1:p.Gly919Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2051G>C
  hgvsp: ENSP00000382593.2:p.Gly685Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3106G>C
  hgvsp: ENSP00000384114.1:p.Gly1036Arg
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1553G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2755G>C
  hgvsp: ENSP00000302028.6:p.Gly919Arg
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25397
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1017Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

3-9512468-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512468
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512468
    reference: chr 3
allele count: 2
allele frequency: 1.726191503685419e-5
allele num: 115862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1554G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2756G>T
  hgvsp: ENSP00000302028.6:p.Gly919Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2391G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3107G>T
  hgvsp: ENSP00000384114.1:p.Gly1036Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2052G>T
  hgvsp: ENSP00000382593.2:p.Gly685Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3050G>T
  hgvsp: ENSP00000385852.1:p.Gly1017Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3050G>T
  hgvsp: ENSP00000383939.1:p.Gly1017Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2756G>T
  hgvsp: ENSP00000384429.1:p.Gly919Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3214G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.118G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1041G>T
  hgvsp: ENSP00000399993.1:p.Gly348Val
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1017Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-9512478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512478
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512478
    reference: chr 3
allele count: 1
allele frequency: 8.82347750895583e-6
allele num: 113334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3060C>T
  hgvsp: ENST00000402198.1:c.3060C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1051C>T
  hgvsp: ENST00000421188.1:c.1051C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2062C>T
  hgvsp: ENST00000399686.2:c.2062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3224C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3060C>T
  hgvsp: ENST00000406341.1:c.3060C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2766C>T
  hgvsp: ENST00000302463.6:c.2766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1564C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.128C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2766C>T
  hgvsp: ENST00000402466.1:c.2766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3117C>T
  hgvsp: ENST00000407969.1:c.3117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2401C>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1020Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-9512505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512505
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512505
    reference: chr 3
allele count: 1
allele frequency: 9.482627825823092e-6
allele num: 105456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.155T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2793T>C
  hgvsp: ENST00000302463.6:c.2793T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2089T>C
  hgvsp: ENST00000399686.2:c.2089T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3144T>C
  hgvsp: ENST00000407969.1:c.3144T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3087T>C
  hgvsp: ENST00000402198.1:c.3087T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1591T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2428T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3087T>C
  hgvsp: ENST00000406341.1:c.3087T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2793T>C
  hgvsp: ENST00000402466.1:c.2793T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3251T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1078T>C
  hgvsp: ENST00000421188.1:c.1078T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15428
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr1029Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-9512513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512513
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512513
    reference: chr 3
allele count: 1
allele frequency: 9.717795226618984e-6
allele num: 102904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3259G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2801G>A
  hgvsp: ENSP00000384429.1:p.Gly934Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1086G>A
  hgvsp: ENSP00000399993.1:p.Gly363Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2436G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3095G>A
  hgvsp: ENSP00000385852.1:p.Gly1032Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3095G>A
  hgvsp: ENSP00000383939.1:p.Gly1032Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2097G>A
  hgvsp: ENSP00000382593.2:p.Gly700Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.163G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3152G>A
  hgvsp: ENSP00000384114.1:p.Gly1051Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2801G>A
  hgvsp: ENSP00000302028.6:p.Gly934Asp
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1599G>A
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1032Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

3-9512520-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512520
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512520
    reference: chr 3
allele count: 1
allele frequency: 9.957184108334163e-6
allele num: 100430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2808G>C
  hgvsp: ENSP00000302028.6:p.Met936Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2104G>C
  hgvsp: ENSP00000382593.2:p.Met702Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2808G>C
  hgvsp: ENSP00000384429.1:p.Met936Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1093G>C
  hgvsp: ENSP00000399993.1:p.Met365Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3102G>C
  hgvsp: ENSP00000385852.1:p.Met1034Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3102G>C
  hgvsp: ENSP00000383939.1:p.Met1034Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3159G>C
  hgvsp: ENSP00000384114.1:p.Met1053Ile
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.170G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3266G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1606G>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2443G>C
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1034Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-9512526-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512526
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512526
    reference: chr 3
allele count: 1
allele frequency: 1.022892330353307e-5
allele num: 97762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2449C>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2814C>G
  hgvsp: ENSP00000384429.1:p.Asp938Glu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3272C>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2814C>G
  hgvsp: ENSP00000302028.6:p.Asp938Glu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3165C>G
  hgvsp: ENSP00000384114.1:p.Asp1055Glu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3108C>G
  hgvsp: ENSP00000385852.1:p.Asp1036Glu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2110C>G
  hgvsp: ENSP00000382593.2:p.Asp704Glu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1099C>G
  hgvsp: ENSP00000399993.1:p.Asp367Glu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3108C>G
  hgvsp: ENSP00000383939.1:p.Asp1036Glu
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.176C>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1612C>G
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1036Glu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-9512529-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512529
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512529
    reference: chr 3
allele count: 1
allele frequency: 1.032353973530444e-5
allele num: 96866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2452C>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3111C>G
  hgvsp: ENST00000406341.1:c.3111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3275C>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1615C>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3111C>G
  hgvsp: ENST00000402198.1:c.3111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2113C>G
  hgvsp: ENST00000399686.2:c.2113C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3168C>G
  hgvsp: ENST00000407969.1:c.3168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1102C>G
  hgvsp: ENST00000421188.1:c.1102C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.179C>G
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2817C>G
  hgvsp: ENST00000402466.1:c.2817C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2817C>G
  hgvsp: ENST00000302463.6:c.2817C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18681
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1037Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

3-9512533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512533
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512533
    reference: chr 3
allele count: 1
allele frequency: 1.047690889280027e-5
allele num: 95448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3279C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.183C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3172C>T
  hgvsp: ENSP00000384114.1:p.Arg1058Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2821C>T
  hgvsp: ENSP00000302028.6:p.Arg941Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3115C>T
  hgvsp: ENSP00000385852.1:p.Arg1039Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2456C>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3115C>T
  hgvsp: ENSP00000383939.1:p.Arg1039Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2117C>T
  hgvsp: ENSP00000382593.2:p.Arg707Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2821C>T
  hgvsp: ENSP00000384429.1:p.Arg941Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1106C>T
  hgvsp: ENSP00000399993.1:p.Arg370Cys
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1619C>T
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1039Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-9512534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512534
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512534
    reference: chr 3
allele count: 25
allele frequency: 2.648361194093095e-4
allele num: 94398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1107G>A
  hgvsp: ENSP00000399993.1:p.Arg370His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2118G>A
  hgvsp: ENSP00000382593.2:p.Arg707His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2822G>A
  hgvsp: ENSP00000384429.1:p.Arg941His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.184G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3116G>A
  hgvsp: ENSP00000385852.1:p.Arg1039His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3280G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3173G>A
  hgvsp: ENSP00000384114.1:p.Arg1058His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2822G>A
  hgvsp: ENSP00000302028.6:p.Arg941His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3116G>A
  hgvsp: ENSP00000383939.1:p.Arg1039His
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1620G>A
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2457G>A
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18529
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10814
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg1039His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-9512537-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512537
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512537
    reference: chr 3
allele count: 1
allele frequency: 1.065552808797204e-5
allele num: 93848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2825G>T
  hgvsp: ENSP00000302028.6:p.Gly942Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1110G>T
  hgvsp: ENSP00000399993.1:p.Gly371Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2825G>T
  hgvsp: ENSP00000384429.1:p.Gly942Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3119G>T
  hgvsp: ENSP00000385852.1:p.Gly1040Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3119G>T
  hgvsp: ENSP00000383939.1:p.Gly1040Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2460G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.187G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2121G>T
  hgvsp: ENSP00000382593.2:p.Gly708Val
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3283G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1623G>T
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3176G>T
  hgvsp: ENSP00000384114.1:p.Gly1059Val
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1040Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-9512539-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512539
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512539
    reference: chr 3
allele count: 1
allele frequency: 1.071995197461515e-5
allele num: 93284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1625T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3178T>C
  hgvsp: ENSP00000384114.1:p.Ser1060Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1112T>C
  hgvsp: ENSP00000399993.1:p.Ser372Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3121T>C
  hgvsp: ENSP00000385852.1:p.Ser1041Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.189T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3285T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2827T>C
  hgvsp: ENSP00000302028.6:p.Ser943Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2827T>C
  hgvsp: ENSP00000384429.1:p.Ser943Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3121T>C
  hgvsp: ENSP00000383939.1:p.Ser1041Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2123T>C
  hgvsp: ENSP00000382593.2:p.Ser709Pro
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2462T>C
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18675
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1041Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

3-9512542-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512542
    reference: chr 3
allele count: 12
allele frequency: 1.307987443320544e-4
allele num: 91744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000385852
  ensembl transcript: ENST00000402198
  gene symbol: SETD5
  hgvsc: ENST00000402198.1:c.3124T>C
  hgvsp: ENST00000402198.1:c.3124T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2126T>C
  hgvsp: ENST00000399686.2:c.2126T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.192T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000466242
  gene symbol: SETD5
  hgvsc: ENST00000466242.1:n.2465T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1115T>C
  hgvsp: ENST00000421188.1:c.1115T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000493918
  gene symbol: SETD5
  hgvsc: ENST00000493918.1:n.3288T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2830T>C
  hgvsp: ENST00000402466.1:c.2830T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000401554
  ensembl transcript: ENST00000413704
  gene symbol: SETD5
  hgvsc: ENST00000413704.1:c.*1628T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000302028
  ensembl transcript: ENST00000302463
  gene symbol: SETD5
  hgvsc: ENST00000302463.6:c.2830T>C
  hgvsp: ENST00000302463.6:c.2830T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000383939
  ensembl transcript: ENST00000406341
  gene symbol: SETD5
  hgvsc: ENST00000406341.1:c.3124T>C
  hgvsp: ENST00000406341.1:c.3124T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3181T>C
  hgvsp: ENST00000407969.1:c.3181T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18139
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11416
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1042Leu
num of homozygotes: 1
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

3-9512553-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9512553
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 9512553
    reference: chr 3
allele count: 1
allele frequency: 1.15350897429982e-5
allele num: 86692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168137
  ensembl transcript: ENST00000486465
  gene symbol: SETD5
  hgvsc: ENST00000486465.1:n.203T>C
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384429
  ensembl transcript: ENST00000402466
  gene symbol: SETD5
  hgvsc: ENST00000402466.1:c.2841T>C
  hgvsp: ENST00000402466.1:c.2841T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000382593
  ensembl transcript: ENST00000399686
  gene symbol: SETD5
  hgvsc: ENST00000399686.2:c.2137T>C
  hgvsp: ENST00000399686.2:c.2137T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000399993
  ensembl transcript: ENST00000421188
  gene symbol: SETD5
  hgvsc: ENST00000421188.1:c.1126T>C
  hgvsp: ENST00000421188.1:c.1126T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168137
  ensembl protein: ENSP00000384114
  ensembl transcript: ENST00000407969
  gene symbol: SETD5
  hgvsc: ENST00000407969.1:c.3192T>C
  hgvsp: ENST00000407969.1:c.3192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25566
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Gly1045Gly
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6720
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 3.159224936815501e-4
allele num: 9496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.862e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

DP
type: SiteQuality
SIO_000300: 1.546741e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

GenotypeQuality
all individuals: 463
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40117
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 634
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6728
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64188
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.668e0

DP
type: SiteQuality
SIO_000300: 1.54902e6

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 632
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3248
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 9.75e1
variant carriers: 15

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 14
allele frequency: 1.275277828384041e-3
allele num: 10978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64346
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.873e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

FS
type: SiteQuality
SIO_000300: 1.438e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.5559e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

GenotypeQuality
all individuals: 40676
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 15

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64376
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 1.267656646142702e-3
allele num: 11044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.086e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.272e0

QD
type: SiteQuality
SIO_000300: 1.836e1

VQSLOD
type: SiteQuality
SIO_000300: -1.64e-1

DP
type: SiteQuality
SIO_000300: 1.557023e6

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 6766
bin: 6.75e1
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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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64628
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.085940759282436e-4
allele num: 9588
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.480076561684357e-4
allele num: 11494
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.568322e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.62e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.091763541924314e-5
allele num: 64688
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.579092159559835e-4
allele num: 11632
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.363e1

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

DP
type: SiteQuality
SIO_000300: 1.571462e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.13e-1

GenotypeQuality
all individuals: 68
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
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 500
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64744
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11728
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.039284971939306e-4
allele num: 9622
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.47e-1

FS
type: SiteQuality
SIO_000300: 4.494e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

DP
type: SiteQuality
SIO_000300: 1.57232e6

QD
type: SiteQuality
SIO_000300: 1.49e1

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
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variant carriers: 0

GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 229
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GenotypeQuality
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GenotypeQuality
all individuals: 3202
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64884
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11988
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.816e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
SIO_000300: 1.578265e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

QD
type: SiteQuality
SIO_000300: 1.559e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535343609899896e-5
allele num: 65132
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.99105002397315e-5
allele num: 12514
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.572e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.6e0

DP
type: SiteQuality
SIO_000300: 1.586744e6

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65132
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.41e-1

FS
type: SiteQuality
SIO_000300: 7.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.572e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.6e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1829
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020965500573983e-5
allele num: 66204
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.145e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.626565e6

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.023122570083896e-4
allele num: 9774
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.301e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

QD
type: SiteQuality
SIO_000300: 1.736e1

DP
type: SiteQuality
SIO_000300: 1.627879e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.199999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 3.44e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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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: 4.75e1
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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: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.298e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.637167e6

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

FS
type: SiteQuality
SIO_000300: 3.689e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.801e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

FS
type: SiteQuality
SIO_000300: 1.841e0

VQSLOD
type: SiteQuality
SIO_000300: 6.69e-1

DP
type: SiteQuality
SIO_000300: 1.644033e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.294e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.644209e6

FS
type: SiteQuality
SIO_000300: 2.192e0

QD
type: SiteQuality
SIO_000300: 1.333e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
all individuals: 1569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.644517e6

BaseQRankSum
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SIO_000300: -5.365e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

QD
type: SiteQuality
SIO_000300: 1.35e1

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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GenotypeQuality
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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: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.376e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

DP
type: SiteQuality
SIO_000300: 1.644734e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.87e-1

QD
type: SiteQuality
SIO_000300: 1.521e1

VQSLOD
type: SiteQuality
SIO_000300: -6.551e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 1.947e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.644929e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.25e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

DP
type: SiteQuality
SIO_000300: 1.645354e6

FS
type: SiteQuality
SIO_000300: 2.591e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.817e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.99e1

QD
type: SiteQuality
SIO_000300: 1.116e1

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1566
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.462e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

DP
type: SiteQuality
SIO_000300: 1.645369e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
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: -7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.316e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.645541e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.295e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7148
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46542
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.443e-1

DP
type: SiteQuality
SIO_000300: 1.645829e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.805e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e0

QD
type: SiteQuality
SIO_000300: 1.215e1

FS
type: SiteQuality
SIO_000300: 5.17e-1

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 816
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variant carriers: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 1.294e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 4.153e0

DP
type: SiteQuality
SIO_000300: 1.646065e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
all individuals: 46556
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 815
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 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: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

FS
type: SiteQuality
SIO_000300: 5.661e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.181e0

QD
type: SiteQuality
SIO_000300: 1.497e1

DP
type: SiteQuality
SIO_000300: 1.646005e6

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 6614
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

DP
type: SiteQuality
SIO_000300: 1.645955e6

MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.21e-1

FS
type: SiteQuality
SIO_000300: 1.932e0

QD
type: SiteQuality
SIO_000300: 1.14e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.402e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.645816e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.052e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.645623e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.689e-1

FS
type: SiteQuality
SIO_000300: 9.978999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -8.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.395e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.041e0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.143e0

DP
type: SiteQuality
SIO_000300: 1.6458e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.709e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 4.25e1
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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: 6.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 1.645498e6

MQRankSum
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SIO_000300: -1.589e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.391e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.011e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.824e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 7.25e1
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: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.241e0

QD
type: SiteQuality
SIO_000300: 1.401e1

DP
type: SiteQuality
SIO_000300: 1.645468e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

GenotypeQuality
all individuals: 1976
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.799e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.011e0

DP
type: SiteQuality
SIO_000300: 1.64565e6

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.121e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

African
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allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.64565e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.799e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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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: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
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allele frequency: 1.122448979591837e-3
allele num: 9800
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

BaseQRankSum
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SIO_000300: 5.18e-1

InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

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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GenotypeQuality
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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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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
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allele count: 4
allele frequency: 4.081632653061225e-4
allele num: 9800
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.471e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.645507e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

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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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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 3.061224489795918e-4
allele num: 9800
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
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DP
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ClippingRankSum
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SIO_000300: -6.29e-1

FS
type: SiteQuality
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MQRankSum
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SIO_000300: 5.13e-1

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

InbreedingCoeff
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SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

East Asian
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allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

Other
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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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European (Non-Finnish)
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allele num: 66740
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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MQ
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BaseQRankSum
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QD
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DP
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 1.1849e1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

QD
type: SiteQuality
SIO_000300: 1.292e1

DP
type: SiteQuality
SIO_000300: 1.644969e6

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

Latino
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allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -4.3e-1

MQRankSum
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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variant carriers: 0

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

European (Non-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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num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

South Asian
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East Asian
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ReadPosRankSum
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SIO_000300: 6.56e-1

InbreedingCoeff
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ClippingRankSum
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FS
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MQ
type: SiteQuality
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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QD
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SIO_000300: 1.028e1

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

European (Finnish)
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num of homozygotes: 0

African
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allele frequency: 2.040816326530612e-4
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East Asian
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Other
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European (Non-Finnish)
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allele count: 97
allele frequency: 1.453401258615523e-3
allele num: 66740
num of homozygotes: 0

Latino
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South Asian
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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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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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 1980
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 8
allele frequency: 9.274287039183863e-4
allele num: 8626
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
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SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
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SIO_000300: 2.6e0

QD
type: SiteQuality
SIO_000300: 1.218e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

DP
type: SiteQuality
SIO_000300: 1.64167e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1831
bin: 7.75e1
variant carriers: 0

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

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

South Asian
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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: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.640816e6

FS
type: SiteQuality
SIO_000300: 6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.75e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
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SIO_000300: 6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
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SIO_000300: 6.05e-1

ReadPosRankSum
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SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

QD
type: SiteQuality
SIO_000300: 1.527e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 234
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GenotypeQuality
all individuals: 1427
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 8626
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.308e1

MQRankSum
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SIO_000300: 1.8e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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BaseQRankSum
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VQSLOD
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SIO_000300: 3.13e0

DP
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SIO_000300: 1.640269e6

FS
type: SiteQuality
SIO_000300: 1.381e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1427
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 231
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

Other
type: Population
allele count: 0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.640226e6

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

FS
type: SiteQuality
SIO_000300: 2.169e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 230
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 66728
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -9.29e-1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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BaseQRankSum
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FS
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MQ
type: SiteQuality
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VQSLOD
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DP
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QD
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ReadPosRankSum
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SIO_000300: 5.659999999999999e-1

GenotypeDepth
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

East Asian
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allele num: 8626
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 4.844961240310077e-4
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

East Asian
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South Asian
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allele num: 16512
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European (Finnish)
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Latino
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Other
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African
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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DP
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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SIO_000300: 5.988e1

VQSLOD
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SIO_000300: 8.41e-1

MQRankSum
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SIO_000300: -5.570000000000001e-1

DP
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ReadPosRankSum
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SIO_000300: 6.94e-1

ClippingRankSum
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SIO_000300: -7.4e-2

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.00792697573865e-5
allele num: 66608
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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Other
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South Asian
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 9.030160736861116e-5
allele num: 66444
num of homozygotes: 0

Latino
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allele frequency: 1.743071291615827e-4
allele num: 11474
num of homozygotes: 0

African
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South Asian
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allele num: 16470
num of homozygotes: 0

VQSLOD
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SIO_000300: 3.45e0

MQ
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SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 7.19e-1

ClippingRankSum
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QD
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ReadPosRankSum
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DP
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MQRankSum
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SIO_000300: -5.8e-2

InbreedingCoeff
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SIO_000300: 2.6e-3

BaseQRankSum
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SIO_000300: -2.979e0

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

African
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allele frequency: 1.025851456709069e-4
allele num: 9748
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQRankSum
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FS
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VQSLOD
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 2.7e-3

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

East Asian
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allele count: 7
allele frequency: 8.206330597889801e-4
allele num: 8530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66018
num of homozygotes: 0

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

Other
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Latino
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: 4.05e0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.533977603926983e-5
allele num: 65190
num of homozygotes: 0

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

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

South Asian
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allele frequency: 1.25250501002004e-4
allele num: 15968
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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Latino
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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Latino
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allele num: 10372
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East Asian
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num of homozygotes: 0

European (Finnish)
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Other
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

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

African
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European (Non-Finnish)
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allele num: 55806
num of homozygotes: 0

Latino
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South Asian
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Other
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East Asian
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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Latino
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ClippingRankSum
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FS
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MQ
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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QD
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DP
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 7708
num of homozygotes: 0

European (Finnish)
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East Asian
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Other
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South Asian
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Latino
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European (Non-Finnish)
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DP
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FS
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 2093
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 18
allele frequency: 2.364687335785602e-3
allele num: 7612
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.986857825567503e-4
allele num: 6696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.525623928367309e-5
allele num: 52490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13446
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.145792e6

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

GenotypeDepth
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20024
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1734
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24641
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.916883913510198e-5
allele num: 52168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13382
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.447e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.596e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 1.140296e6

QD
type: SiteQuality
SIO_000300: 1.832e1

GenotypeDepth
all individuals: 119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20600
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24427
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5522
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.926856526263055e-5
allele num: 51898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.021e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.538e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.296e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

DP
type: SiteQuality
SIO_000300: 1.131293e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

GenotypeDepth
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21498
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 482
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 23557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 6.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 684
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 183
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7376
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.692307692307692e-3
allele num: 6500
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.96255446088629e-5
allele num: 50954
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 9.159000000000001e0

DP
type: SiteQuality
SIO_000300: 1.116551e6

QD
type: SiteQuality
SIO_000300: 1.218e1