2-88396313-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88396313
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88396313
    reference: chr 2
allele count: 6
allele frequency: 5.144826876575604e-5
allele num: 116622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.849+10G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.888+10G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.294+12322G>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13380
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24953
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-88396313-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88396313
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88396313
    reference: chr 2
allele count: 3
allele frequency: 2.572413438287802e-5
allele num: 116622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.294+12322G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.849+10G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.888+10G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24953
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 573
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genotype quality: GenotypeQuality
  all individuals: 8272
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-88396324-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88396324
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88396325
    reference: chr 2
allele count: 1
allele frequency: 8.669417761903111e-6
allele num: 115348
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.294+12334dupA
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.849+22dupA
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.888+22dupA
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
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genotype depth: GenotypeDepth
  all individuals: 438
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-88396329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88396329
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88396329
    reference: chr 2
allele count: 3
allele frequency: 2.616522467206252e-5
allele num: 114656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.294+12338G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.888+26G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.849+26G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 437
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-88396331-TTGTGTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88396331
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88396325
    reference: chr 2
allele count: 1
allele frequency: 8.717635777177229e-6
allele num: 114710
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.888+32_888+37delGTCTGT
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.849+32_849+37delGTCTGT
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: TTGTGTC
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-88396348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88396348
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88396348
    reference: chr 2
allele count: 22444
allele frequency: 2.03991856322257e-1
allele num: 110024
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.888+45G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.849+45G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.294+12357G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.5e0
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 4.25e1
  variant carriers: 680
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 1376
genotype depth: GenotypeDepth
  all individuals: 11454
  bin: 2.25e1
  variant carriers: 4658
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 8127
  bin: 1.25e1
  variant carriers: 2208
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 7.5e0
  variant carriers: 910
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 3934
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 3927
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 3.25e1
  variant carriers: 2563
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 375
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 1.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 20627
  bin: 9.75e1
  variant carriers: 19135
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3845
  bin: 3.75e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 1.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 4.75e1
  variant carriers: 159
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 9.25e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 178
genotype quality: GenotypeQuality
  all individuals: 4553
  bin: 2.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 2.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 7753
  bin: 6.25e1
  variant carriers: 202
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.75e1
  variant carriers: 172
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.75e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 6.75e1
  variant carriers: 189
genotype quality: GenotypeQuality
  all individuals: 456
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  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 4.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 110
num of homozygotes: 2159
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-88396349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88396349
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88396349
    reference: chr 2
allele count: 2
allele frequency: 1.810118562765861e-5
allele num: 110490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.849+46G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.294+12358G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.888+46G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9059
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6073
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

2-88396350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88396350
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88396350
    reference: chr 2
allele count: 2
allele frequency: 1.812743587419559e-5
allele num: 110330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.849+47G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.294+12359G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.888+47G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2771
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 817
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-88396355-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88396355
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88396355
    reference: chr 2
allele count: 1
allele frequency: 9.168087720263307e-6
allele num: 109074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.849+52A>G
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.888+52A>G
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.294+12364A>G
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5713
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5716
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-88402529-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402529
    reference: chr 2
allele count: 3
allele frequency: 2.53798517816656e-5
allele num: 118204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9092G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.850-48G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.889-48G>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14944
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16545
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5806
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6049
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2906
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

2-88402537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402537
    reference: chr 2
allele count: 1
allele frequency: 8.435686327439601e-6
allele num: 118544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9084C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.850-40C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.889-40C>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28188
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-88402539-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402539
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402539
    reference: chr 2
allele count: 1
allele frequency: 8.427439743805831e-6
allele num: 118660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.850-38T>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.889-38T>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9082T>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1892
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-88402559-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402559
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402559
    reference: chr 2
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.889-18T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.850-18T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9062T>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-88402560-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402560
    reference: chr 2
allele count: 12351
allele frequency: 1.030486583900681e-1
allele num: 119856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.850-17G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.889-17G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9061G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.25e1
  variant carriers: 1487
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 1.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 9.75e1
  variant carriers: 690
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 580
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 1085
genotype depth: GenotypeDepth
  all individuals: 16487
  bin: 2.75e1
  variant carriers: 1198
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.25e1
  variant carriers: 1441
genotype depth: GenotypeDepth
  all individuals: 21941
  bin: 2.25e1
  variant carriers: 800
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 3.75e1
  variant carriers: 1572
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 222
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 774
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 402
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 427
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5096
  bin: 6.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 7.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31808
  bin: 6.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 7.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 3.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 14726
  bin: 9.75e1
  variant carriers: 11344
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 31
num of homozygotes: 729
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

2-88402562-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402560
    reference: chr 2
allele count: 9
allele frequency: 7.498625252037126e-5
allele num: 120022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9053_295-9052delCT
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.850-9_850-8delCT
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.889-9_889-8delCT
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20627
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 38967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: GTC
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-88402564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402564
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402564
    reference: chr 2
allele count: 1
allele frequency: 8.328197611472925e-6
allele num: 120074
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.889-13C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9057C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.850-13C>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-88402566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402566
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402566
    reference: chr 2
allele count: 2
allele frequency: 1.66461364317342e-5
allele num: 120148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.850-11C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.889-11C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9055C>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23972
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

2-88402572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402572
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402572
    reference: chr 2
allele count: 2
allele frequency: 1.660770929865644e-5
allele num: 120426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.850-5C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.889-5C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9049C>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21026
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 8.75e1
  variant carriers: 0
hgvs: c.889-5C>T
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-88402573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402573
    reference: chr 2
allele count: 3
allele frequency: 2.490577315821807e-5
allele num: 120454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9048C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.889-4C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.850-4C>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
hgvs: c.889-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-88402582-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402582
    reference: chr 2
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.894T>A
  hgvsp: ENST00000419482.2:c.894T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9039T>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.855T>A
  hgvsp: ENST00000444564.2:c.855T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser298Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

2-88402585-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402585
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402585
    reference: chr 2
allele count: 258
allele frequency: 2.135302004535447e-3
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.897G>T
  hgvsp: ENSP00000393453.2:p.Gln299His
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9036G>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.858G>T
  hgvsp: ENSP00000407888.2:p.Gln286His
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 24768
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 21416
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln299His
num of homozygotes: 2
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-88402588-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402588
    reference: chr 2
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.861A>C
  hgvsp: ENSP00000407888.2:p.Glu287Asp
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.900A>C
  hgvsp: ENSP00000393453.2:p.Glu300Asp
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9033A>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6810
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41523
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu300Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-88402589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402589
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402589
    reference: chr 2
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.862G>A
  hgvsp: ENSP00000407888.2:p.Val288Met
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.901G>A
  hgvsp: ENSP00000393453.2:p.Val301Met
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9032G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 790
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6811
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 119
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 41543
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genotype quality: GenotypeQuality
  all individuals: 65
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val301Met
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-88402600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402600
    reference: chr 2
allele count: 9
allele frequency: 7.439123175348398e-5
allele num: 120982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.873G>A
  hgvsp: ENST00000444564.2:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.912G>A
  hgvsp: ENST00000419482.2:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9021G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21718
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 41689
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genotype quality: GenotypeQuality
  all individuals: 73
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu304Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-88402605-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402605
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402605
    reference: chr 2
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9016T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.878T>C
  hgvsp: ENSP00000407888.2:p.Ile293Thr
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.917T>C
  hgvsp: ENSP00000393453.2:p.Ile306Thr
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 24821
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6843
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 41738
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile306Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-88402609-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402609
    reference: chr 2
allele count: 2
allele frequency: 1.652373634726284e-5
allele num: 121038
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.882A>G
  hgvsp: ENST00000444564.2:c.882A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.921A>G
  hgvsp: ENST00000419482.2:c.921A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-9012A>G
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln307Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-88402640-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402640
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402640
    reference: chr 2
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.952A>G
  hgvsp: ENSP00000393453.2:p.Lys318Glu
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8981A>G
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.913A>G
  hgvsp: ENSP00000407888.2:p.Lys305Glu
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6785
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys318Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/2-88402646-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402646
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402646
    reference: chr 2
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.919C>A
  hgvsp: ENSP00000407888.2:p.Arg307Ser
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8975C>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.958C>A
  hgvsp: ENSP00000393453.2:p.Arg320Ser
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6751
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg320Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-88402646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402646
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402646
    reference: chr 2
allele count: 23
allele frequency: 1.906846407667181e-4
allele num: 120618
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.958C>T
  hgvsp: ENSP00000393453.2:p.Arg320Cys
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.919C>T
  hgvsp: ENSP00000407888.2:p.Arg307Cys
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8975C>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21830
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23966
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41035
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg320Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-88402647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402647
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402647
    reference: chr 2
allele count: 17
allele frequency: 1.410484044936362e-4
allele num: 120526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8974G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.959G>A
  hgvsp: ENSP00000393453.2:p.Arg320His
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.920G>A
  hgvsp: ENSP00000407888.2:p.Arg307His
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23864
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21784
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg320His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-88402651-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402651
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402651
    reference: chr 2
allele count: 987
allele frequency: 8.195087929058934e-3
allele num: 120438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.924C>A
  hgvsp: ENST00000444564.2:c.924C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.963C>A
  hgvsp: ENST00000419482.2:c.963C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8970C>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 3.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 23466
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 21534
  bin: 2.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5030
  bin: 9.75e1
  variant carriers: 970
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6580
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser321Ser
num of homozygotes: 13
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-88402651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402651
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402651
    reference: chr 2
allele count: 3
allele frequency: 2.490908185124296e-5
allele num: 120438
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.963C>T
  hgvsp: ENST00000419482.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.924C>T
  hgvsp: ENST00000444564.2:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8970C>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5030
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 40379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser321Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum

2-88402652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402652
    reference: chr 2
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.925G>A
  hgvsp: ENSP00000407888.2:p.Glu309Lys
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8969G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.964G>A
  hgvsp: ENSP00000393453.2:p.Glu322Lys
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu322Lys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-88402652-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402652
    reference: chr 2
allele count: 6
allele frequency: 4.983223148732601e-5
allele num: 120404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.925G>C
  hgvsp: ENSP00000407888.2:p.Glu309Gln
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.964G>C
  hgvsp: ENSP00000393453.2:p.Glu322Gln
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8969G>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21995
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40991
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu322Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

2-88402654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402654
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402654
    reference: chr 2
allele count: 2
allele frequency: 1.66220641279234e-5
allele num: 120322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.966G>A
  hgvsp: ENST00000419482.2:c.966G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.927G>A
  hgvsp: ENST00000444564.2:c.927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8967G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu322Glu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-88402656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402656
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402656
    reference: chr 2
allele count: 3
allele frequency: 2.495383540450167e-5
allele num: 120222
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.968G>A
  hgvsp: ENSP00000393453.2:p.Gly323Asp
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8965G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.929G>A
  hgvsp: ENSP00000407888.2:p.Gly310Asp
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21953
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6688
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly323Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-88402678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402678
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402678
    reference: chr 2
allele count: 1
allele frequency: 8.442950980226608e-6
allele num: 118442
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+9T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+9T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8943T>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35174
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2071
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
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genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-88402679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402679
    reference: chr 2
allele count: 1
allele frequency: 8.446231291597689e-6
allele num: 118396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8942C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+10C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+10C>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19582
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 20662
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-88402688-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402688
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402688
    reference: chr 2
allele count: 2
allele frequency: 1.702910273657681e-5
allele num: 117446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+19T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8933T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+19T>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1884
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5781
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 394
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genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 459
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

2-88402691-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402691
    reference: chr 2
allele count: 1
allele frequency: 8.534753516318448e-6
allele num: 117168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8930A>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+22A>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+22A>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8380
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15910
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS

2-88402695-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402695
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402695
    reference: chr 2
allele count: 1
allele frequency: 8.564283512041383e-6
allele num: 116764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+26T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8926T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+26T>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-88402695-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402695
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402694
    reference: chr 2
allele count: 2
allele frequency: 1.712856702408277e-5
allele num: 116764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8921delG
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+31delG
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+31delG
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: TG
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-88402697-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402697
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402697
    reference: chr 2
allele count: 1
allele frequency: 8.595348197555483e-6
allele num: 116342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+28G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+28G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8924G>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15005
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5056
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1895
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

2-88402699-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402699
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402699
    reference: chr 2
allele count: 9
allele frequency: 7.744866874343837e-5
allele num: 116206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8922G>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+30G>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+30G>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14981
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3077
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
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genotype quality: GenotypeQuality
  all individuals: 23423
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 562
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-88402700-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402700
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402700
    reference: chr 2
allele count: 1
allele frequency: 8.619797951936006e-6
allele num: 116012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+31G>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8921G>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+31G>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9143
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12334
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4321
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-88402701-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402700
    reference: chr 2
allele count: 1
allele frequency: 8.621730208818305e-6
allele num: 115986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+33delA
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8919delA
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+33delA
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TA
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-88402707-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402707
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402707
    reference: chr 2
allele count: 1
allele frequency: 8.674080113803931e-6
allele num: 115286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+38G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+38G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8914G>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-88402708-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402708
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402708
    reference: chr 2
allele count: 2
allele frequency: 1.736804626847526e-5
allele num: 115154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+39G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8913G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+39G>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4078
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15615
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

2-88402717-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88402717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88402717
    reference: chr 2
allele count: 1
allele frequency: 8.842202062001521e-6
allele num: 113094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-8904A>G
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.942+48A>G
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.981+48A>G
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-88405795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405795
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405795
    reference: chr 2
allele count: 4
allele frequency: 3.336614337431808e-5
allele num: 119882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5826C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.943-49C>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.982-49C>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16226
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-88405796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405796
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405796
    reference: chr 2
allele count: 10
allele frequency: 8.324453915823122e-5
allele num: 120128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.943-48G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5825G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.982-48G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16232
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-88405799-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405799
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405799
    reference: chr 2
allele count: 1
allele frequency: 8.317253310266817e-6
allele num: 120232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.943-45T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5822T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.982-45T>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16244
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-88405800-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405800
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405800
    reference: chr 2
allele count: 4
allele frequency: 3.326237360298031e-5
allele num: 120256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.943-44G>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.982-44G>T
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5821G>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12797
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16250
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6159
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

2-88405804-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405804
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405804
    reference: chr 2
allele count: 3
allele frequency: 2.492853819052051e-5
allele num: 120344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5817T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.982-40T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.943-40T>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4194
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-88405808-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405808
    reference: chr 2
allele count: 6
allele frequency: 4.982643790795396e-5
allele num: 120418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5813G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.982-36G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.943-36G>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14493
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12571
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16290
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-88405812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405812
    reference: chr 2
allele count: 4
allele frequency: 3.319391887406227e-5
allele num: 120504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.943-32T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.982-32T>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5809T>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10333
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16304
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-88405821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405821
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405821
    reference: chr 2
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.982-23G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.943-23G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5800G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15269
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16326
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5104
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-88405821-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405821
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405822
    reference: chr 2
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.943-22dupC
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.982-22dupC
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5799dupC
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16326
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4420
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-88405825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405825
    reference: chr 2
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.982-19G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5796G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.943-19G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16335
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-88405843-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405843
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405843
    reference: chr 2
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.982-1G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.943-1G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5778G>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
hgvs: c.982-1G>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-88405859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405859
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405859
    reference: chr 2
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.997C>T
  hgvsp: ENSP00000393453.2:p.Arg333Trp
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.958C>T
  hgvsp: ENSP00000407888.2:p.Arg320Trp
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5762C>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 64
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg333Trp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

2-88405860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405860
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405860
    reference: chr 2
allele count: 112
allele frequency: 9.239094568732264e-4
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5761G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.959G>A
  hgvsp: ENSP00000407888.2:p.Arg320Gln
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.998G>A
  hgvsp: ENSP00000393453.2:p.Arg333Gln
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14401
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 15091
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6860
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 109
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genotype quality: GenotypeQuality
  all individuals: 2380
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genotype quality: GenotypeQuality
  all individuals: 17882
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4503
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16426
  bin: 9.75e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg333Gln
num of homozygotes: 1
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-88405860-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405860
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405860
    reference: chr 2
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5761G>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.959G>C
  hgvsp: ENSP00000407888.2:p.Arg320Pro
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.998G>C
  hgvsp: ENSP00000393453.2:p.Arg333Pro
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14401
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg333Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

2-88405862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405862
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405862
    reference: chr 2
allele count: 5
allele frequency: 4.123643321347277e-5
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5759G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1000G>A
  hgvsp: ENSP00000393453.2:p.Glu334Lys
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.961G>A
  hgvsp: ENSP00000407888.2:p.Glu321Lys
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16386
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu334Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum

2-88405864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405864
    reference: chr 2
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1002G>A
  hgvsp: ENST00000419482.2:c.1002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.963G>A
  hgvsp: ENST00000444564.2:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5757G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6897
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu334Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-88405865-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405865
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405865
    reference: chr 2
allele count: 12
allele frequency: 9.895438202988422e-5
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.964T>C
  hgvsp: ENSP00000407888.2:p.Cys322Arg
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1003T>C
  hgvsp: ENSP00000393453.2:p.Cys335Arg
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5756T>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11274
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16392
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys335Arg
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-88405868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405868
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405868
    reference: chr 2
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1006C>T
  hgvsp: ENST00000419482.2:c.1006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.967C>T
  hgvsp: ENST00000444564.2:c.967C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5753C>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu336Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

2-88405871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405871
    reference: chr 2
allele count: 54
allele frequency: 4.45162566774385e-4
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1009G>A
  hgvsp: ENSP00000393453.2:p.Glu337Lys
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.970G>A
  hgvsp: ENSP00000407888.2:p.Glu324Lys
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5750G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14996
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14508
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11291
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6899
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16435
  bin: 9.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu337Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-88405871-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405871
    reference: chr 2
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1009G>T
  hgvsp: ENSP00000393453.2:p.Glu337Ter
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.970G>T
  hgvsp: ENSP00000407888.2:p.Glu324Ter
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5750G>T
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16435
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6899
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu337Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-88405876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405876
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405876
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5745G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1014G>A
  hgvsp: ENST00000419482.2:c.1014G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.975G>A
  hgvsp: ENST00000444564.2:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 42
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genotype quality: GenotypeQuality
  all individuals: 6912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3612
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys338Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-88405878-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405878
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405878
    reference: chr 2
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.977A>C
  hgvsp: ENSP00000407888.2:p.Gln326Pro
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5743A>C
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1016A>C
  hgvsp: ENSP00000393453.2:p.Gln339Pro
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln339Pro
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-88405880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405880
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405880
    reference: chr 2
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.979G>A
  hgvsp: ENSP00000407888.2:p.Glu327Lys
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1018G>A
  hgvsp: ENSP00000393453.2:p.Glu340Lys
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5741G>A
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18009
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu340Lys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

2-88405885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405885
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405885
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1023A>G
  hgvsp: ENST00000419482.2:c.1023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5736A>G
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.984A>G
  hgvsp: ENST00000444564.2:c.984A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14630
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18028
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro341Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-88405888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405888
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405888
    reference: chr 2
allele count: 9
allele frequency: 7.416441426593711e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1026G>A
  hgvsp: ENST00000419482.2:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5733G>A
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.987G>A
  hgvsp: ENST00000444564.2:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16412
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6923
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2387
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18028
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val342Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

2-88405891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405891
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405891
    reference: chr 2
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1029T>C
  hgvsp: ENST00000419482.2:c.1029T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.990T>C
  hgvsp: ENST00000444564.2:c.990T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5730T>C
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16405
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe343Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

2-88405904-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88405904
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 88405904
    reference: chr 2
allele count: 67
allele frequency: 5.520127869230642e-4
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000407888
  ensembl transcript: ENST00000444564
  gene symbol: SMYD1
  hgvsc: ENST00000444564.2:c.1003A>G
  hgvsp: ENSP00000407888.2:p.Ile335Val
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000393453
  ensembl transcript: ENST00000419482
  gene symbol: SMYD1
  hgvsc: ENST00000419482.2:c.1042A>G
  hgvsp: ENSP00000393453.2:p.Ile348Val
  variant of: http://identifiers.org/hgnc/20986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115593
  ensembl protein: ENSP00000387482
  ensembl transcript: ENST00000438570
  gene symbol: SMYD1
  hgvsc: ENST00000438570.1:c.295-5717A>G
  variant of: http://identifiers.org/hgnc/20986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16454
  bin: 9.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6935
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile348Val
num of homozygotes: 0
population: European (Non-Finnish)
reference allele: A

GenotypeQuality
all individuals: 744
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.674832688647388e-5
allele num: 65148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.784258608573436e-5
allele num: 11384
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.188e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 1.711e0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.598e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.682116e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

GenotypeQuality
all individuals: 988
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65148
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.635277582572031e-4
allele num: 11384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13886
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.598e0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 1.711e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.682116e6

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

GenotypeQuality
all individuals: 357
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.865824782951855e-5
allele num: 10136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13316
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.325e1

DP
type: SiteQuality
SIO_000300: 1.611156e6

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.434e0

FS
type: SiteQuality
SIO_000300: 4.159e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

GenotypeQuality
all individuals: 2236
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64372
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.549455750118315e-4
allele num: 8452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 1.268e0

QD
type: SiteQuality
SIO_000300: 1.306e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.233e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.558413e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552264754276489e-5
allele num: 64422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13016
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.826e0

MQ
type: SiteQuality
SIO_000300: 5.356e1

FS
type: SiteQuality
SIO_000300: 2.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 1.556164e6

QD
type: SiteQuality
SIO_000300: 5.83e0

GenotypeQuality
all individuals: 1051
bin: 8.25e1
variant carriers: 188

European (Finnish)
type: Population
allele count: 1320
allele frequency: 2.035780382479951e-1
allele num: 6484
num of homozygotes: 131

European (Non-Finnish)
type: Population
allele count: 12186
allele frequency: 1.949822394316618e-1
allele num: 62498
num of homozygotes: 1046

Other
type: Population
allele count: 163
allele frequency: 2.027363184079602e-1
allele num: 804
num of homozygotes: 16

African
type: Population
allele count: 2848
allele frequency: 2.895485969906466e-1
allele num: 9836
num of homozygotes: 379

Latino
type: Population
allele count: 2965
allele frequency: 2.750974206717387e-1
allele num: 10778
num of homozygotes: 349

East Asian
type: Population
allele count: 1130
allele frequency: 1.395406273153865e-1
allele num: 8098
num of homozygotes: 83

South Asian
type: Population
allele count: 1832
allele frequency: 1.589449939267742e-1
allele num: 11526
num of homozygotes: 155

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.390048e6

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

QD
type: SiteQuality
SIO_000300: 2.232e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

GenotypeQuality
all individuals: 4759
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.188978888959755e-5
allele num: 62716
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.302e0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.044e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

DP
type: SiteQuality
SIO_000300: 1.340023e6

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 1.017e1

GenotypeQuality
all individuals: 1696
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.768972227136034e-4
allele num: 11306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

MQ
type: SiteQuality
SIO_000300: 5.662e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 1.33574e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.27e-1

QD
type: SiteQuality
SIO_000300: 2.069e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.855e0

GenotypeQuality
all individuals: 2564
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61087663906698e-5
allele num: 62078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.521e0

MQ
type: SiteQuality
SIO_000300: 5.545e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.141e0

FS
type: SiteQuality
SIO_000300: 4.337e0

DP
type: SiteQuality
SIO_000300: 1.326153e6

MQRankSum
type: SiteQuality
SIO_000300: -1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

QD
type: SiteQuality
SIO_000300: 5.19e0

GenotypeQuality
all individuals: 22276
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.595025119470653e-5
allele num: 65288
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

QD
type: SiteQuality
SIO_000300: 1.608e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

DP
type: SiteQuality
SIO_000300: 1.636173e6

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
all individuals: 2521
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
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African
type: Population
allele count: 1
allele frequency: 9.986019572598362e-5
allele num: 10014
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65482
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.667427e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525739220652406e-5
allele num: 65542
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 894
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6560
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FS
type: SiteQuality
SIO_000300: 8.28e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.675952e6

QD
type: SiteQuality
SIO_000300: 1.464e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.25e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
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South Asian
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allele count: 0
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East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10096
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65994
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Other
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DP
type: SiteQuality
SIO_000300: 1.739386e6

MQ
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

FS
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: 9.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 11

Latino
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allele count: 670
allele frequency: 5.897887323943662e-2
allele num: 11360
num of homozygotes: 23

South Asian
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allele count: 2443
allele frequency: 1.509515570934256e-1
allele num: 16184
num of homozygotes: 198

African
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allele count: 1749
allele frequency: 1.720779220779221e-1
allele num: 10164
num of homozygotes: 145

European (Non-Finnish)
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allele count: 6803
allele frequency: 1.029914918097314e-1
allele num: 66054
num of homozygotes: 339

European (Finnish)
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allele count: 433
allele frequency: 6.578547553934974e-2
allele num: 6582
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Other
type: Population
allele count: 89
allele frequency: 9.955257270693513e-2
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East Asian
type: Population
allele count: 164
allele frequency: 1.902993734045022e-2
allele num: 8618
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.15e-2

FS
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.242e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

DP
type: SiteQuality
SIO_000300: 1.921705e6

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
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allele num: 894
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European (Finnish)
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allele count: 2
allele frequency: 3.035822707953856e-4
allele num: 6588
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East Asian
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.058009129107343e-4
allele num: 66162
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Latino
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African
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South Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.727564e6

FS
type: SiteQuality
SIO_000300: 2.305e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQ
type: SiteQuality
SIO_000300: 6.028e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.11e-1

QD
type: SiteQuality
SIO_000300: 1.61e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6584
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East Asian
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allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11400
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16198
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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QD
type: SiteQuality
SIO_000300: 2.754e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.729308e6

VQSLOD
type: SiteQuality
SIO_000300: -2.486e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

FS
type: SiteQuality
SIO_000300: 2.301e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.019961948479449e-5
allele num: 66226
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South Asian
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allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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allele num: 894
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 4.15e0

DP
type: SiteQuality
SIO_000300: 1.732212e6

VQSLOD
type: SiteQuality
SIO_000300: -3.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

QD
type: SiteQuality
SIO_000300: 3.357e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.013863773357444e-5
allele num: 66360
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.739763e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.241e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.520523175215478e-5
allele num: 66364
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Latino
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allele count: 0
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South Asian
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allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 2.859e0

QD
type: SiteQuality
SIO_000300: 2.163e1

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.519e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

East Asian
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allele count: 0
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African
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allele frequency: 9.723842862699339e-5
allele num: 10284
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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 11488
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MQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.468e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 252

East Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 6.088015307009915e-4
allele num: 11498
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African
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allele count: 249
allele frequency: 2.416537267080745e-2
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

South Asian
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allele count: 0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.502765087761481e-5
allele num: 66544
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Other
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Latino
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East Asian
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African
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European (Finnish)
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South Asian
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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DP
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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African
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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MQRankSum
type: SiteQuality
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VQSLOD
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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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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 0

African
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European (Finnish)
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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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allele count: 9
allele frequency: 1.35179789119529e-4
allele num: 66578
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Other
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allele num: 900
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FS
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.493e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

DP
type: SiteQuality
SIO_000300: 1.752062e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.752449e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 1.369e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002642325246217e-5
allele num: 66608
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

FS
type: SiteQuality
SIO_000300: 5.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.152e1

DP
type: SiteQuality
SIO_000300: 1.752964e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10262
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
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allele frequency: 0.0e0
allele num: 11494
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.834e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.955e0

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

FS
type: SiteQuality
SIO_000300: 1.018e0

DP
type: SiteQuality
SIO_000300: 1.749285e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 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: 6.12294881214793e-5
allele num: 16332
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

QD
type: SiteQuality
SIO_000300: 1.172e1

DP
type: SiteQuality
SIO_000300: 1.745433e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.35423876734178e-4
allele num: 66458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.133589117544472e-3
allele num: 11468
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.745433e6

FS
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.409058058299205e-4
allele num: 66416
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10196
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: 11458
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.128201985537444e-5
allele num: 16318
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

DP
type: SiteQuality
SIO_000300: 1.743294e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 16
allele frequency: 2.424242424242424e-3
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.37497544686702e-3
allele num: 10182
num of homozygotes: 0

Latino
type: Population
allele count: 35
allele frequency: 3.056768558951965e-3
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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Other
type: Population
allele count: 9
allele frequency: 1.002227171492205e-2
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 259
allele frequency: 1.588957055214724e-2
allele num: 16300
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 654
allele frequency: 9.854146576663452e-3
allele num: 66368
num of homozygotes: 6

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

DP
type: SiteQuality
SIO_000300: 1.765454e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

FS
type: SiteQuality
SIO_000300: 5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.42e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.134969325153375e-5
allele num: 16300
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
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European (Finnish)
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allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.765454e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.42e-2

FS
type: SiteQuality
SIO_000300: 5.69e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

South Asian
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allele frequency: 6.139489194499017e-5
allele num: 16288
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.736805e6

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.031e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

Other
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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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South Asian
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allele count: 6
allele frequency: 3.683693516699411e-4
allele num: 16288
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East Asian
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allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.736805e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.783e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

African
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.152331733727083e-5
allele num: 16254
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509206157561123e-5
allele num: 66260
num of homozygotes: 0

East Asian
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allele count: 0
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.531581204435459e-5
allele num: 65292
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
allele num: 6566
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Other
type: Population
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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African
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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South Asian
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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South Asian
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InbreedingCoeff
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DP
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QD
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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African
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East Asian
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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GenotypeQuality
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Other
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European (Finnish)
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African
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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MQRankSum
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QD
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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MQ
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FS
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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Other
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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FS
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BaseQRankSum
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GenotypeQuality
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Latino
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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African
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European (Finnish)
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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Latino
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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MQRankSum
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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Other
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South Asian
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Latino
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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Latino
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South Asian
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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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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VQSLOD
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DP
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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MQRankSum
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VQSLOD
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MQ
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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East Asian
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African
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Latino
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South Asian
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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VQSLOD
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MQ
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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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QD
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ReadPosRankSum
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SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

FS
type: SiteQuality
SIO_000300: 2.129e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

DP
type: SiteQuality
SIO_000300: 1.944212e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6117
bin: 6.75e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507295309296997e-5
allele num: 66344
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.46e-1

DP
type: SiteQuality
SIO_000300: 1.952602e6

VQSLOD
type: SiteQuality
SIO_000300: -1.392e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.028090903610827e-5
allele num: 66356
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.956538e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 2.861e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.86706497386109e-4
allele num: 16068
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.084e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.969221e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.724857213806804e-4
allele num: 16108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.456e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.292e0

MQRankSum
type: SiteQuality
SIO_000300: -8.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

DP
type: SiteQuality
SIO_000300: 1.981412e6

QD
type: SiteQuality
SIO_000300: 1.227e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.634994206257242e-4
allele num: 8630
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.1e-2

DP
type: SiteQuality
SIO_000300: 1.991127e6

FS
type: SiteQuality
SIO_000300: 9.327999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

QD
type: SiteQuality
SIO_000300: 1.414e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.164468006411046e-5
allele num: 16222
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.03e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 6.041e1

FS
type: SiteQuality
SIO_000300: 4.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 2.008131e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.216e0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 2.008131e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 4.108e0

MQ
type: SiteQuality
SIO_000300: 6.041e1

QD
type: SiteQuality
SIO_000300: 1.03e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.216e0

GenotypeQuality
all individuals: 16967
bin: 6.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 5.897e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.85e-1

DP
type: SiteQuality
SIO_000300: 2.015326e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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South Asian
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allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 2.555e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.032471e6

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

African
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allele frequency: 0.0e0
allele num: 10400
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.522533495736906e-4
allele num: 6568
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
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allele num: 904
num of homozygotes: 0

South Asian
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allele frequency: 1.820609297244811e-4
allele num: 16478
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6572
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

African
type: Population
allele count: 101
allele frequency: 9.711538461538461e-3
allele num: 10400
num of homozygotes: 1

Latino
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allele count: 6
allele frequency: 5.188516084399862e-4
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000660145231951e-5
allele num: 66652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.98e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

FS
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.043535e6

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
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allele frequency: 3.032876379958753e-4
allele num: 16486
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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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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VQSLOD
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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num of homozygotes: 0

Latino
type: Population
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allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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MQ
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Other
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East Asian
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allele frequency: 1.386642015253062e-3
allele num: 8654
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66674
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

FS
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 2.041147e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.499700059988002e-5
allele num: 66680
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.93e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.89717215941464e-4
allele num: 66694
num of homozygotes: 0

East Asian
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South Asian
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African
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allele frequency: 9.613535858488752e-5
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Latino
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allele frequency: 5.187618882932734e-4
allele num: 11566
num of homozygotes: 0

VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.37e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.043716e6

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: 16498
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Other
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ClippingRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 2.49e-1

InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

DP
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SIO_000300: 2.043716e6

QD
type: SiteQuality
SIO_000300: 1.225e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499115521842113e-5
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South Asian
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VQSLOD
type: SiteQuality
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MQ
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
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Latino
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East Asian
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ClippingRankSum
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BaseQRankSum
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FS
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DP
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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East Asian
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Latino
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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FS
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QD
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MQ
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

South Asian
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European (Finnish)
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allele frequency: 1.517911353976928e-4
allele num: 6588
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BaseQRankSum
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MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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East Asian
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African
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South Asian
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allele frequency: 5.452562704471102e-4
allele num: 16506
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
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num of homozygotes: 0

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

Latino
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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 frequency: 1.498711108446736e-5
allele num: 66724
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Other
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African
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QD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
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FS
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MQ
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 6.443298969072165e-4
allele num: 66736
num of homozygotes: 0