1-246027158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246027158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246027158
    reference: chr 1
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.667G>A
  hgvsp: ENSP00000444184.1:p.Val223Ile
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1199G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.277G>A
  hgvsp: ENSP00000375712.2:p.Val93Ile
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.404G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.844G>A
  hgvsp: ENSP00000373637.4:p.Val282Ile
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.313G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.667G>A
  hgvsp: ENSP00000419184.1:p.Val223Ile
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.347G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.482G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.708G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.493G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val282Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-246027164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246027164
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246027164
    reference: chr 1
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1193G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.702G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.838G>A
  hgvsp: ENSP00000373637.4:p.Glu280Lys
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.661G>A
  hgvsp: ENSP00000444184.1:p.Glu221Lys
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.476G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.398G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.307G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.487G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.661G>A
  hgvsp: ENSP00000419184.1:p.Glu221Lys
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.271G>A
  hgvsp: ENSP00000375712.2:p.Glu91Lys
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.341G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu280Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

1-246027169-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246027169
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246027169
    reference: chr 1
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1188G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.393G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.656G>A
  hgvsp: ENSP00000444184.1:p.Gly219Asp
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.266G>A
  hgvsp: ENSP00000375712.2:p.Gly89Asp
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.697G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.833G>A
  hgvsp: ENSP00000373637.4:p.Gly278Asp
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.302G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.656G>A
  hgvsp: ENSP00000419184.1:p.Gly219Asp
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.471G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.336G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.482G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly278Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

1-246027183-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246027183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246027183
    reference: chr 1
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.642T>A
  hgvsp: ENST00000490107.1:c.642T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1174T>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.288T>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.642T>A
  hgvsp: ENST00000541742.1:c.642T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.819T>A
  hgvsp: ENST00000388985.4:c.819T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.683T>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.468T>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.457T>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.379T>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.252T>A
  hgvsp: ENST00000391836.2:c.252T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.322T>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala273Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-246027185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246027185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246027185
    reference: chr 1
allele count: 26
allele frequency: 2.144471387802907e-4
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.466G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.250G>A
  hgvsp: ENSP00000375712.2:p.Ala84Thr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.817G>A
  hgvsp: ENSP00000373637.4:p.Ala273Thr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.640G>A
  hgvsp: ENSP00000419184.1:p.Ala214Thr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.286G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.640G>A
  hgvsp: ENSP00000444184.1:p.Ala214Thr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1172G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.681G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.320G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.377G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.455G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17443
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala273Thr
num of homozygotes: 1
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

1-246027191-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246027191
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246027190
    reference: chr 1
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.814-4delG
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.283-4delG
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.678-4delG
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.374-4delG
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.637-4delG
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.452-4delG
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.637-4delG
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.247-4delG
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.463-4delG
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.317-4delG
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1169-4delG
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.814-4delG
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: GC
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-246027197-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246027197
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246027197
    reference: chr 1
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.463-9C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.452-9C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.814-9C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.283-9C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.247-9C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1169-9C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.678-9C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.374-9C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.317-9C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.637-9C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.637-9C>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7537
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-246027202-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246027202
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246027202
    reference: chr 1
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.463-14T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.678-14T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.317-14T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.283-14T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.637-14T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.637-14T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.374-14T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.814-14T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1169-14T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.452-14T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.247-14T>C
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP

1-246027206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246027206
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246027206
    reference: chr 1
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.637-18C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.374-18C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.317-18C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.247-18C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1169-18C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.452-18C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.814-18C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.637-18C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.463-18C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.283-18C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.678-18C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5129
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-246027212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246027212
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246027212
    reference: chr 1
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.637-24G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.814-24G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.678-24G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.247-24G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.452-24G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.374-24G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.463-24G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.317-24G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1169-24G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.283-24G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.637-24G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-246027232-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246027232
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246027232
    reference: chr 1
allele count: 1
allele frequency: 8.311999202048076e-6
allele num: 120308
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.814-44T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.247-44T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.317-44T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.374-44T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.463-44T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.283-44T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.678-44T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.452-44T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.637-44T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.637-44T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1169-44T>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13231
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-246078782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078782
    reference: chr 1
allele count: 1
allele frequency: 8.343902276216541e-6
allele num: 119848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+50G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+50G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+50G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+50G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+50G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+50G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+50G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+50G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12451G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+50G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+50G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-246078785-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078785
    reference: chr 1
allele count: 11
allele frequency: 9.167889051873583e-5
allele num: 119984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+47A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+47A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+47A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+47A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+47A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+47A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12448A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+47A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+47A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+47A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+47A>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14087
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

1-246078789-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078790
    reference: chr 1
allele count: 1
allele frequency: 8.331111703545721e-6
allele num: 120032
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+42dupA
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+42dupA
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+42dupA
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+42dupA
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+42dupA
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+42dupA
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+42dupA
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+42dupA
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+42dupA
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+42dupA
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12443dupA
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-246078796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078796
    reference: chr 1
allele count: 571
allele frequency: 4.757223314559936e-3
allele num: 120028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+36G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+36G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+36G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+36G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+36G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+36G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+36G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+36G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+36G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+36G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12437G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14118
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 24005
  bin: 2.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 7511
  bin: 2.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 4.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 6699
  bin: 9.75e1
  variant carriers: 543
num of homozygotes: 14
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-246078797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078797
    reference: chr 1
allele count: 7
allele frequency: 5.825468950250495e-5
allele num: 120162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+35C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+35C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+35C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+35C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+35C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+35C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+35C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+35C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+35C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+35C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12436C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

1-246078800-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078800
    reference: chr 1
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+32C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+32C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+32C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+32C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+32C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+32C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+32C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+32C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+32C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+32C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12433C>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

1-246078802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078802
    reference: chr 1
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12431C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+30C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-246078803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078803
    reference: chr 1
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12430C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+29C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+29C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+29C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+29C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+29C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+29C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+29C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+29C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+29C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+29C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34883
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-246078808-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078808
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078808
    reference: chr 1
allele count: 1
allele frequency: 8.30357884248111e-6
allele num: 120430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+24A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+24A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+24A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+24A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+24A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+24A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+24A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12425A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+24A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+24A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+24A>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-246078811-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078811
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078811
    reference: chr 1
allele count: 141
allele frequency: 1.169988549048243e-3
allele num: 120514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+21T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+21T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+21T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+21T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+21T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+21T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+21T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+21T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+21T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+21T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12422T>C
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14218
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8795
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24592
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-246078824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078824
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078824
    reference: chr 1
allele count: 1028
allele frequency: 8.499942121016686e-3
allele num: 120942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+8G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+8G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12409G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+8G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+8G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+8G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+8G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+8G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+8G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+8G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+8G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 14251
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 24879
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 9.75e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
hgvs: c.813+8G>A
num of homozygotes: 30
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/1-246078827-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078827
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078827
    reference: chr 1
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.282+5G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.636+5G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.462+5G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.246+5G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12406G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.451+5G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.373+5G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.813+5G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.636+5G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.677+5G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1168+5G>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.813+5G>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-246078835-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078835
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078835
    reference: chr 1
allele count: 2
allele frequency: 1.650682557237418e-5
allele num: 121162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1165C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.633C>G
  hgvsp: ENSP00000419184.1:p.Asp211Glu
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.279C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12398C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.459C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.674C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.448C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.243C>G
  hgvsp: ENSP00000375712.2:p.Asp81Glu
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.633C>G
  hgvsp: ENSP00000444184.1:p.Asp211Glu
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.810C>G
  hgvsp: ENSP00000373637.4:p.Asp270Glu
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.370C>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp270Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-246078836-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078836
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078836
    reference: chr 1
allele count: 3
allele frequency: 2.475615190374808e-5
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.369A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.447A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.632A>G
  hgvsp: ENSP00000444184.1:p.Asp211Gly
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.632A>G
  hgvsp: ENSP00000419184.1:p.Asp211Gly
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.242A>G
  hgvsp: ENSP00000375712.2:p.Asp81Gly
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.809A>G
  hgvsp: ENSP00000373637.4:p.Asp270Gly
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.278A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1164A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.673A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.458A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12397A>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp270Gly
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-246078846-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078846
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078846
    reference: chr 1
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.437C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.799C>A
  hgvsp: ENSP00000373637.4:p.Gln267Lys
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.663C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1154C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.622C>A
  hgvsp: ENSP00000419184.1:p.Gln208Lys
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.359C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.622C>A
  hgvsp: ENSP00000444184.1:p.Gln208Lys
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.268C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.448C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12387C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.232C>A
  hgvsp: ENSP00000375712.2:p.Gln78Lys
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln267Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

1-246078847-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078847
    reference: chr 1
allele count: 311
allele frequency: 2.564060284272664e-3
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.662C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.358C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.798C>T
  hgvsp: ENST00000388985.4:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.447C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.267C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.621C>T
  hgvsp: ENST00000490107.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.436C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.621C>T
  hgvsp: ENST00000541742.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1153C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.231C>T
  hgvsp: ENST00000391836.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12386C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14494
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
hgvs: p.Cys266Cys
num of homozygotes: 5
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-246078851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078851
    reference: chr 1
allele count: 130
allele frequency: 1.071758343226487e-3
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.617G>A
  hgvsp: ENSP00000419184.1:p.Arg206His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.263G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.794G>A
  hgvsp: ENSP00000373637.4:p.Arg265His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.432G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12382G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.617G>A
  hgvsp: ENSP00000444184.1:p.Arg206His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.227G>A
  hgvsp: ENSP00000375712.2:p.Arg76His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.354G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1149G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.658G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.443G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25642
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14587
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Arg265His
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

1-246078852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078852
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078852
    reference: chr 1
allele count: 6
allele frequency: 4.94600610007419e-5
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.616C>T
  hgvsp: ENSP00000444184.1:p.Arg206Cys
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.616C>T
  hgvsp: ENSP00000419184.1:p.Arg206Cys
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.442C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.226C>T
  hgvsp: ENSP00000375712.2:p.Arg76Cys
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.657C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12381C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.262C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.793C>T
  hgvsp: ENSP00000373637.4:p.Arg265Cys
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1148C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.431C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.353C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg265Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-246078853-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078853
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078853
    reference: chr 1
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.656C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1147C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.430C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.792C>G
  hgvsp: ENSP00000373637.4:p.Phe264Leu
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.225C>G
  hgvsp: ENSP00000375712.2:p.Phe75Leu
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.261C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.441C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.615C>G
  hgvsp: ENSP00000419184.1:p.Phe205Leu
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.615C>G
  hgvsp: ENSP00000444184.1:p.Phe205Leu
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12380C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.352C>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe264Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-246078871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078871
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078871
    reference: chr 1
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.423C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.597C>T
  hgvsp: ENST00000490107.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.597C>T
  hgvsp: ENST00000541742.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.638C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.243C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12362C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.774C>T
  hgvsp: ENST00000388985.4:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.207C>T
  hgvsp: ENST00000391836.2:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1129C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.412C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.334C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys258Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-246078872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078872
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078872
    reference: chr 1
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.773G>A
  hgvsp: ENSP00000373637.4:p.Cys258Tyr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.411G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.333G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1128G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.596G>A
  hgvsp: ENSP00000444184.1:p.Cys199Tyr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.596G>A
  hgvsp: ENSP00000419184.1:p.Cys199Tyr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.206G>A
  hgvsp: ENSP00000375712.2:p.Cys69Tyr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.637G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.242G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.422G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12361G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys258Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/1-246078873-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078873
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078873
    reference: chr 1
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12360T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.595T>G
  hgvsp: ENSP00000419184.1:p.Cys199Gly
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.410T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.772T>G
  hgvsp: ENSP00000373637.4:p.Cys258Gly
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.421T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.241T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1127T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.636T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.205T>G
  hgvsp: ENSP00000375712.2:p.Cys69Gly
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.595T>G
  hgvsp: ENSP00000444184.1:p.Cys199Gly
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.332T>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys258Gly
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

1-246078876-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078876
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078876
    reference: chr 1
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.592T>C
  hgvsp: ENSP00000444184.1:p.Tyr198His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.418T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.329T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.202T>C
  hgvsp: ENSP00000375712.2:p.Tyr68His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.769T>C
  hgvsp: ENSP00000373637.4:p.Tyr257His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.407T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.238T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.592T>C
  hgvsp: ENSP00000419184.1:p.Tyr198His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1124T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.633T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12357T>C
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr257His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-246078882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078882
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078882
    reference: chr 1
allele count: 4
allele frequency: 3.296250515039143e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.196G>A
  hgvsp: ENSP00000375712.2:p.Asp66Asn
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12351G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.763G>A
  hgvsp: ENSP00000373637.4:p.Asp255Asn
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.627G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.412G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.586G>A
  hgvsp: ENSP00000444184.1:p.Asp196Asn
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.232G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.401G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.586G>A
  hgvsp: ENSP00000419184.1:p.Asp196Asn
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1118G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.323G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp255Asn
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: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-246078888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078888
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078888
    reference: chr 1
allele count: 11
allele frequency: 9.064539521392314e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.580C>T
  hgvsp: ENST00000541742.1:c.580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.621C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.226C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1112C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.580C>T
  hgvsp: ENST00000490107.1:c.580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.190C>T
  hgvsp: ENST00000391836.2:c.190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.395C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12345C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.757C>T
  hgvsp: ENST00000388985.4:c.757C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.406C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.317C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu253Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

1-246078891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078891
    reference: chr 1
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.754C>T
  hgvsp: ENSP00000373637.4:p.Gln252Ter
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.618C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1109C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.577C>T
  hgvsp: ENSP00000444184.1:p.Gln193Ter
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.577C>T
  hgvsp: ENSP00000419184.1:p.Gln193Ter
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.187C>T
  hgvsp: ENSP00000375712.2:p.Gln63Ter
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.403C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.314C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.223C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12342C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.392C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25743
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln252Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

1-246078897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078897
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078897
    reference: chr 1
allele count: 6
allele frequency: 4.944783253667381e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.386C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.571C>T
  hgvsp: ENSP00000419184.1:p.Arg191Trp
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.217C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.397C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.748C>T
  hgvsp: ENSP00000373637.4:p.Arg250Trp
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.612C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.308C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.181C>T
  hgvsp: ENSP00000375712.2:p.Arg61Trp
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12336C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.571C>T
  hgvsp: ENSP00000444184.1:p.Arg191Trp
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1103C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg250Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-246078899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078899
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078899
    reference: chr 1
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.215G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.306G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.569G>A
  hgvsp: ENSP00000444184.1:p.Arg190His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.569G>A
  hgvsp: ENSP00000419184.1:p.Arg190His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.610G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1101G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.746G>A
  hgvsp: ENSP00000373637.4:p.Arg249His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.395G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.179G>A
  hgvsp: ENSP00000375712.2:p.Arg60His
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12334G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.384G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg249His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-246078919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078919
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078919
    reference: chr 1
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12314G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.286G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.549G>A
  hgvsp: ENSP00000419184.1:p.Met183Ile
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1081G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.364G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.375G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.549G>A
  hgvsp: ENSP00000444184.1:p.Met183Ile
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.195G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.590G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.726G>A
  hgvsp: ENSP00000373637.4:p.Met242Ile
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.159G>A
  hgvsp: ENSP00000375712.2:p.Met53Ile
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met242Ile
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-246078920-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078920
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078920
    reference: chr 1
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1080T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.363T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.285T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.158T>C
  hgvsp: ENSP00000375712.2:p.Met53Thr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.548T>C
  hgvsp: ENSP00000444184.1:p.Met183Thr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12313T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.725T>C
  hgvsp: ENSP00000373637.4:p.Met242Thr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.194T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.548T>C
  hgvsp: ENSP00000419184.1:p.Met183Thr
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.374T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.589T>C
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met242Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

1-246078932-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078932
    reference: chr 1
allele count: 7
allele frequency: 5.776721462995973e-5
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.146G>C
  hgvsp: ENSP00000375712.2:p.Cys49Ser
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.273G>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1068G>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.713G>C
  hgvsp: ENSP00000373637.4:p.Cys238Ser
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.577G>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.536G>C
  hgvsp: ENSP00000444184.1:p.Cys179Ser
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.536G>C
  hgvsp: ENSP00000419184.1:p.Cys179Ser
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.182G>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.351G>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12301G>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.362G>C
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys238Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-246078933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078933
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078933
    reference: chr 1
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.712T>C
  hgvsp: ENSP00000373637.4:p.Cys238Arg
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.535T>C
  hgvsp: ENSP00000444184.1:p.Cys179Arg
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1067T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.535T>C
  hgvsp: ENSP00000419184.1:p.Cys179Arg
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.350T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12300T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.576T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.145T>C
  hgvsp: ENSP00000375712.2:p.Cys49Arg
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.272T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.181T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.361T>C
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys238Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

1-246078936-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078936
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078936
    reference: chr 1
allele count: 4
allele frequency: 3.30338266384778e-5
allele num: 121088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.532A>T
  hgvsp: ENSP00000419184.1:p.Ile178Phe
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.709A>T
  hgvsp: ENSP00000373637.4:p.Ile237Phe
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1064A>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.142A>T
  hgvsp: ENSP00000375712.2:p.Ile48Phe
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.573A>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.178A>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.269A>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.532A>T
  hgvsp: ENSP00000444184.1:p.Ile178Phe
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12297A>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.358A>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.347A>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile237Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-246078936-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078936
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078936
    reference: chr 1
allele count: 6
allele frequency: 4.95507399577167e-5
allele num: 121088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.269A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.347A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.532A>G
  hgvsp: ENSP00000444184.1:p.Ile178Val
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.358A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.573A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.709A>G
  hgvsp: ENSP00000373637.4:p.Ile237Val
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.532A>G
  hgvsp: ENSP00000419184.1:p.Ile178Val
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12297A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1064A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.178A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.142A>G
  hgvsp: ENSP00000375712.2:p.Ile48Val
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile237Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-246078940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078940
    reference: chr 1
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.174C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.265C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.343C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.528C>T
  hgvsp: ENST00000541742.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.528C>T
  hgvsp: ENST00000490107.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12293C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.705C>T
  hgvsp: ENST00000388985.4:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1060C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.569C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.354C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.138C>T
  hgvsp: ENST00000391836.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.705C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

1-246078944-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078944
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078944
    reference: chr 1
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.352-2A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.526-2A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.263-2A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.703-2A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.172-2A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1058-2A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12289A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.136-2A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.526-2A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.341-2A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.567-2A>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 8.25e1
  variant carriers: 0
hgvs: c.703-2A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

1-246078961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078961
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078961
    reference: chr 1
allele count: 349
allele frequency: 2.912264890936097e-3
allele num: 119838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.526-19C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.172-19C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1058-19C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.567-19C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.136-19C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.263-19C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12272C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.703-19C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.341-19C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.352-19C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.526-19C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 3.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 3.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 4.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 23673
  bin: 2.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 3
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-246078967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078967
    reference: chr 1
allele count: 1
allele frequency: 8.37548996616302e-6
allele num: 119396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12266G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1058-25G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.526-25G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.263-25G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.567-25G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.352-25G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.341-25G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.703-25G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.172-25G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.136-25G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.526-25G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

1-246078968-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078968
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078968
    reference: chr 1
allele count: 6970
allele frequency: 5.848591135650393e-2
allele num: 119174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12265C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.136-26C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1058-26C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.567-26C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.341-26C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.703-26C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.526-26C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.172-26C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.263-26C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.352-26C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.526-26C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 1.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 4.25e1
  variant carriers: 743
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 9.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 22556
  bin: 2.75e1
  variant carriers: 1087
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 11726
  bin: 3.25e1
  variant carriers: 1302
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 3.75e1
  variant carriers: 1131
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 1.75e1
  variant carriers: 299
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 2.25e1
  variant carriers: 640
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 424
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 2
num of homozygotes: 421
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-246078970-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078970
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078970
    reference: chr 1
allele count: 1
allele frequency: 8.403078888104602e-6
allele num: 119004
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.703-28A>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12263A>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.136-28A>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.352-28A>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1058-28A>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.341-28A>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.526-28A>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.526-28A>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.172-28A>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.263-28A>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.567-28A>C
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-246078976-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078976
    reference: chr 1
allele count: 6
allele frequency: 5.055526533088421e-5
allele num: 118682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.352-34T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.703-34T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1058-34T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.526-34T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.526-34T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.136-34T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.341-34T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.263-34T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.172-34T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.567-34T>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12257T>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5869
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

1-246078976-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078976
    reference: chr 1
allele count: 1
allele frequency: 8.425877555147369e-6
allele num: 118682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.172-34T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.526-34T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12257T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.341-34T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.567-34T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.263-34T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.526-34T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1058-34T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.136-34T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.703-34T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.352-34T>C
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5869
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-246078984-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078984
    reference: chr 1
allele count: 1
allele frequency: 8.523405270873819e-6
allele num: 117324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.172-42A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.526-42A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.703-42A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1058-42A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.263-42A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.341-42A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.136-42A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.567-42A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12249A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.352-42A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.526-42A>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

1-246078989-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246078989
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246078989
    reference: chr 1
allele count: 1
allele frequency: 8.609704859317423e-6
allele num: 116148
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.703-47T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.567-47T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1058-47T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.263-47T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.341-47T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+12244T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.352-47T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.172-47T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.526-47T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.136-47T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.526-47T>C
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5869
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-246091184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091184
    reference: chr 1
allele count: 1
allele frequency: 9.091239681442962e-6
allele num: 109996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.351+49C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.525+49C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.340+49C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.566+49C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.702+49C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+49C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1057+49C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.171+49C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.525+49C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.135+49C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.262+49C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-246091191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091191
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091191
    reference: chr 1
allele count: 22
allele frequency: 1.997711712038937e-4
allele num: 110126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+42C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.702+42C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1057+42C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.340+42C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.262+42C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.525+42C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.566+42C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.171+42C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.351+42C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.525+42C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.135+42C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15983
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff

1-246091193-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091193
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091193
    reference: chr 1
allele count: 342
allele frequency: 3.094742557234639e-3
allele num: 110510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.340+40A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.171+40A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.135+40A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+40A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.351+40A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.525+40A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.702+40A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.566+40A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.525+40A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.262+40A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1057+40A>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 1.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10895
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 2.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 17307
  bin: 2.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 20214
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 3
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-246091203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091203
    reference: chr 1
allele count: 2
allele frequency: 1.794945433658817e-5
allele num: 111424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.340+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1057+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.351+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.262+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.566+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.525+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.525+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.171+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.702+30C>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.135+30C>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-246091207-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091207
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091207
    reference: chr 1
allele count: 1
allele frequency: 8.903292437543403e-6
allele num: 112318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.262+26T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.525+26T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.566+26T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.525+26T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.340+26T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1057+26T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.351+26T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.135+26T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.702+26T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.171+26T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+26T>C
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11242
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-246091209-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091209
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091209
    reference: chr 1
allele count: 1
allele frequency: 8.875949726620749e-6
allele num: 112664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.525+24C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.702+24C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.566+24C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.135+24C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1057+24C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.525+24C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.171+24C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.262+24C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.351+24C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.340+24C>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+24C>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

1-246091210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091210
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091210
    reference: chr 1
allele count: 1
allele frequency: 8.862891075068688e-6
allele num: 112830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.171+23G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.262+23G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.351+23G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.135+23G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.525+23G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.702+23G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.525+23G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.340+23G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1057+23G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.566+23G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+23G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-246091211-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091211
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091211
    reference: chr 1
allele count: 1
allele frequency: 8.833298000141333e-6
allele num: 113208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.340+22A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.525+22A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.702+22A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.171+22A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.262+22A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.525+22A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.135+22A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.351+22A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1057+22A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+22A>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.566+22A>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-246091213-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091213
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091213
    reference: chr 1
allele count: 3
allele frequency: 2.64219407796234e-5
allele num: 113542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.566+20C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.135+20C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.262+20C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.525+20C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.702+20C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.525+20C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.351+20C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+20C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.171+20C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.340+20C>G
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1057+20C>G
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-246091216-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091216
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091216
    reference: chr 1
allele count: 1
allele frequency: 8.752275591653831e-6
allele num: 114256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.262+17T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.525+17T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.171+17T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+17T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.351+17T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.702+17T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1057+17T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.566+17T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.135+17T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.340+17T>C
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.525+17T>C
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-246091218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091218
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091218
    reference: chr 1
allele count: 3
allele frequency: 2.615701182296934e-5
allele num: 114692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1057+15G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.171+15G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.351+15G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.262+15G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.525+15G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.340+15G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.566+15G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.316+15G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.525+15G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.135+15G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.702+15G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12773
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-246091235-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091235
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091235
    reference: chr 1
allele count: 1
allele frequency: 8.536647829130458e-6
allele num: 117142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.523G>T
  hgvsp: ENSP00000444184.1:p.Glu175Ter
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.338G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.349G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.133G>T
  hgvsp: ENSP00000375712.2:p.Glu45Ter
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.564G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.700G>T
  hgvsp: ENSP00000373637.4:p.Glu234Ter
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1055G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.523G>T
  hgvsp: ENSP00000419184.1:p.Glu175Ter
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.314G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.260G>T
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.169G>T
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu234Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-246091236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 246091236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 246091236
    reference: chr 1
allele count: 1
allele frequency: 8.528493697443158e-6
allele num: 117254
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000373637
  ensembl transcript: ENST00000388985
  gene symbol: SMYD3
  hgvsc: ENST00000388985.4:c.699G>A
  hgvsp: ENST00000388985.4:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000375712
  ensembl transcript: ENST00000391836
  gene symbol: SMYD3
  hgvsc: ENST00000391836.2:c.132G>A
  hgvsp: ENST00000391836.2:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000493441
  gene symbol: SMYD3
  hgvsc: ENST00000493441.1:n.337G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000419184
  ensembl transcript: ENST00000490107
  gene symbol: SMYD3
  hgvsc: ENST00000490107.1:c.522G>A
  hgvsp: ENST00000490107.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000470510
  gene symbol: SMYD3
  hgvsc: ENST00000470510.1:n.168G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000488153
  gene symbol: SMYD3
  hgvsc: ENST00000488153.1:n.313G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185420
  ensembl protein: ENSP00000444184
  ensembl transcript: ENST00000541742
  gene symbol: SMYD3
  hgvsc: ENST00000541742.1:c.522G>A
  hgvsp: ENST00000541742.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366517
  gene symbol: SMYD3
  hgvsc: ENST00000366517.1:n.563G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000366516
  gene symbol: SMYD3
  hgvsc: ENST00000366516.1:n.1054G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000492487
  gene symbol: SMYD3
  hgvsc: ENST00000492487.1:n.259G>A
  variant of: http://identifiers.org/hgnc/15513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185420
  ensembl transcript: ENST00000464398
  gene symbol: SMYD3
  hgvsc: ENST00000464398.1:n.348G>A
  variant of: http://identifiers.org/hgnc/15513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu233Glu
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2253
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 927
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39541
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 710
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 3.457e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.89e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.005e0

DP
type: SiteQuality
SIO_000300: 1.829112e6

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

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

GenotypeQuality
all individuals: 39551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.826e1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e0

DP
type: SiteQuality
SIO_000300: 1.829015e6

VQSLOD
type: SiteQuality
SIO_000300: -2.317e0

FS
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 6.18e0

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

GenotypeQuality
all individuals: 5130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 709
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39543
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.714e1

DP
type: SiteQuality
SIO_000300: 1.828906e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.092e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.547e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.569e0

GenotypeQuality
all individuals: 5130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39464
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.827821e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

FS
type: SiteQuality
SIO_000300: 2.257e0

QD
type: SiteQuality
SIO_000300: 1.089e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5151
bin: 9.75e1
variant carriers: 24

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

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 26
allele frequency: 1.578244506495083e-3
allele num: 16474
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.263e0

FS
type: SiteQuality
SIO_000300: 1.277e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 1.828285e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.58e-2

GenotypeDepth
all individuals: 150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39208
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7591
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.621e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.984e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

DP
type: SiteQuality
SIO_000300: 1.82602e6

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

MQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 3.441e0

VQSLOD
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SIO_000300: -1.23e0

DP
type: SiteQuality
SIO_000300: 1.822309e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.083e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

ClippingRankSum
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SIO_000300: 1.11e-1

BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.399e1

MQ
type: SiteQuality
SIO_000300: 5.869e1

MQRankSum
type: SiteQuality
SIO_000300: -5.19e-1

FS
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 1.81834e6

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQRankSum
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SIO_000300: 9.2e-2

ReadPosRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.813852e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.123e0

QD
type: SiteQuality
SIO_000300: 7.62e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.032e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

FS
type: SiteQuality
SIO_000300: 1.814e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.0e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
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QD
type: SiteQuality
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ClippingRankSum
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MQ
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SIO_000300: 5.928e1

MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.141e1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.720984e6

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 9
allele frequency: 1.356443104747551e-4
allele num: 66350
num of homozygotes: 0

QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.407791874919902e-5
allele num: 15606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.937716e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 3.861e0

MQ
type: SiteQuality
SIO_000300: 6.112e1

QD
type: SiteQuality
SIO_000300: 6.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 670
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2262
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 820
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 421
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 7853
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 33543
bin: 6.25e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 393
allele frequency: 2.517294388931591e-2
allele num: 15612
num of homozygotes: 13

Other
type: Population
allele count: 11
allele frequency: 1.235955056179775e-2
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.474670367800139e-3
allele num: 11528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.51285930408472e-3
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 138
allele frequency: 2.079879427279578e-3
allele num: 66350
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.79e-2

DP
type: SiteQuality
SIO_000300: 1.947729e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.519e1

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6180
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variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 684
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1898
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.05443918898563e-4
allele num: 66386
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.334e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.94231e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

GenotypeQuality
all individuals: 358
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 479
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 8010
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GenotypeQuality
all individuals: 209
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 828
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GenotypeQuality
all individuals: 2944
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34647
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15748
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.945805e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 2.957e1

VQSLOD
type: SiteQuality
SIO_000300: -2.892e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 2.119e0

MQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.49e-1

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 438
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variant carriers: 0

GenotypeQuality
all individuals: 8032
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variant carriers: 0

GenotypeQuality
all individuals: 528
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variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 34820
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variant carriers: 0

GenotypeQuality
all individuals: 637
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variant carriers: 0

GenotypeQuality
all individuals: 342
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variant carriers: 0

GenotypeQuality
all individuals: 828
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variant carriers: 0

GenotypeQuality
all individuals: 6173
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.678e0

QD
type: SiteQuality
SIO_000300: 1.491e1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.302e0

DP
type: SiteQuality
SIO_000300: 1.947575e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.346e0

GenotypeQuality
all individuals: 415
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 632
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GenotypeQuality
all individuals: 1899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 6172
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 510
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GenotypeQuality
all individuals: 2949
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 330
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GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 8036
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variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 8.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15808
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

FS
type: SiteQuality
SIO_000300: 2.836e0

QD
type: SiteQuality
SIO_000300: 1.398e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.186e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

DP
type: SiteQuality
SIO_000300: 1.948236e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 400
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variant carriers: 0

GenotypeQuality
all individuals: 1896
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 307
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GenotypeQuality
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 279
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variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15876
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 2.794e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

DP
type: SiteQuality
SIO_000300: 1.952932e6

QD
type: SiteQuality
SIO_000300: 1.441e1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 520
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GenotypeQuality
all individuals: 2313
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6189
bin: 9.75e1
variant carriers: 140

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 136
allele frequency: 1.30718954248366e-2
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.466204506065858e-4
allele num: 11540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 1.960553e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.15e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.485e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

GenotypeDepth
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bin: 8.25e1
variant carriers: 89

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 2311
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GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6374
bin: 9.75e1
variant carriers: 995

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2965
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36280
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1865
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 98
allele frequency: 8.481911026484334e-3
allele num: 11554
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.106194690265487e-2
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 185
allele frequency: 2.778862619040466e-3
allele num: 66574
num of homozygotes: 0

African
type: Population
allele count: 675
allele frequency: 6.487889273356401e-2
allele num: 10404
num of homozygotes: 30

South Asian
type: Population
allele count: 7
allele frequency: 4.308752923796627e-4
allele num: 16246
num of homozygotes: 0

East Asian
type: Population
allele count: 52
allele frequency: 6.014341892204488e-3
allele num: 8646
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.758e0

DP
type: SiteQuality
SIO_000300: 2.01169e6

FS
type: SiteQuality
SIO_000300: 5.82e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.15e-2

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

GenotypeDepth
all individuals: 167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8312
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36864
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5515
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.068e1

DP
type: SiteQuality
SIO_000300: 1.953313e6

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 9.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.955e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.269e0

GenotypeQuality
all individuals: 37148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5514
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 822
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variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.220107369448512e-4
allele num: 16392
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 1.95619e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.62e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.217e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 2.124e0

QD
type: SiteQuality
SIO_000300: 1.434e1

GenotypeQuality
all individuals: 1902
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5512
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37162
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.073e0

QD
type: SiteQuality
SIO_000300: 1.162e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.75e-1

DP
type: SiteQuality
SIO_000300: 1.956548e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5510
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8367
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

East Asian
type: Population
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: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.318e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.033e0

FS
type: SiteQuality
SIO_000300: 7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: -1.064e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.457e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.958169e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
all individuals: 2369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 805
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variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5584
bin: 9.75e1
variant carriers: 306

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 19
allele frequency: 1.64303009339329e-3
allele num: 11564
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.500075000750007e-5
allele num: 66666
num of homozygotes: 0

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

Other
type: Population
allele count: 3
allele frequency: 3.311258278145695e-3
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 284
allele frequency: 2.729194695368057e-2
allele num: 10406
num of homozygotes: 4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.91e-2

DP
type: SiteQuality
SIO_000300: 1.975827e6

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

VQSLOD
type: SiteQuality
SIO_000300: 5.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 3034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37481
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5360
bin: 9.75e1
variant carriers: 130

GenotypeQuality
all individuals: 2378
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.459609064175748e-4
allele num: 11562
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.032876379958753e-4
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 112
allele frequency: 1.679966400671987e-3
allele num: 66668
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

FS
type: SiteQuality
SIO_000300: 1.127e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

DP
type: SiteQuality
SIO_000300: 1.959315e6

GenotypeQuality
all individuals: 37595
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5241
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3039
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

South Asian
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allele frequency: 2.425712553062462e-4
allele num: 16490
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East Asian
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allele frequency: 0.0e0
allele num: 8652
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African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.999490086685263e-5
allele num: 66678
num of homozygotes: 0

DP
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: -6.2e-2

BaseQRankSum
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SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
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South Asian
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 4.6e-2

VQSLOD
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MQ
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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SIO_000300: 1.16e-1

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 8.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

GenotypeQuality
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variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66704
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East Asian
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Latino
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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European (Non-Finnish)
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South Asian
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

East Asian
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.649076517150396e-4
allele num: 66704
num of homozygotes: 0

Latino
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Other
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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FS
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QD
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VQSLOD
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MQ
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BaseQRankSum
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SIO_000300: -3.374e0

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

African
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East Asian
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South Asian
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.497885993583016e-5
allele num: 66698
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African
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East Asian
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South Asian
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

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

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

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

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

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

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

Other
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allele num: 908
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66654
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

European (Finnish)
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num of homozygotes: 0

African
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Other
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele num: 66624
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South Asian
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Latino
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66614
num of homozygotes: 0

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

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

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

South Asian
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allele count: 4
allele frequency: 2.432202359236289e-4
allele num: 16446
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.993e1

FS
type: SiteQuality
SIO_000300: 1.834e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.918e0

DP
type: SiteQuality
SIO_000300: 1.942916e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.846893633391037e-4
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

DP
type: SiteQuality
SIO_000300: 1.942916e6

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 5.993e1

FS
type: SiteQuality
SIO_000300: 1.834e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.918e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1867
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variant carriers: 0

GenotypeQuality
all individuals: 8318
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.154e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.069e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 1.008e1

DP
type: SiteQuality
SIO_000300: 1.940502e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.207e0

DP
type: SiteQuality
SIO_000300: 1.937525e6

GenotypeQuality
all individuals: 619
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 218
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 747
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GenotypeQuality
all individuals: 5356
bin: 9.75e1
variant carriers: 341

GenotypeQuality
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GenotypeQuality
all individuals: 963
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 409
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GenotypeQuality
all individuals: 2103
bin: 7.25e1
variant carriers: 1

Other
type: Population
allele count: 3
allele frequency: 3.325942350332594e-3
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.159420289855072e-3
allele num: 10350
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.077180188392585e-4
allele num: 6582
num of homozygotes: 0

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

Latino
type: Population
allele count: 82
allele frequency: 7.206890490420109e-3
allele num: 11378
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 248
allele frequency: 3.768767856057383e-3
allele num: 65804
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.521e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

DP
type: SiteQuality
SIO_000300: 1.865779e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5030
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 1712
bin: 8.25e1
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GenotypeQuality
all individuals: 464
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.165228113440197e-5
allele num: 16220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65540
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.45e1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 1.821141e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 695
bin: 9.25e1
variant carriers: 37

GenotypeQuality
all individuals: 1582
bin: 7.25e1
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GenotypeQuality
all individuals: 9376
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variant carriers: 6321

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 63
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GenotypeQuality
all individuals: 3853
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GenotypeQuality
all individuals: 29711
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 1999
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variant carriers: 22

GenotypeQuality
all individuals: 324
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 333
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GenotypeQuality
all individuals: 511
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variant carriers: 24

GenotypeQuality
all individuals: 332
bin: 4.75e1
variant carriers: 14

GenotypeQuality
all individuals: 6298
bin: 6.75e1
variant carriers: 24

South Asian
type: Population
allele count: 2157
allele frequency: 1.328692866822718e-1
allele num: 16234
num of homozygotes: 168

Latino
type: Population
allele count: 1375
allele frequency: 1.222656944691446e-1
allele num: 11246
num of homozygotes: 86

Other
type: Population
allele count: 35
allele frequency: 3.897550111358575e-2
allele num: 898
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 853
allele frequency: 1.30316548521144e-2
allele num: 65456
num of homozygotes: 7

African
type: Population
allele count: 1509
allele frequency: 1.461076684740511e-1
allele num: 10328
num of homozygotes: 108

East Asian
type: Population
allele count: 1003
allele frequency: 1.187544399715842e-1
allele num: 8446
num of homozygotes: 51

European (Finnish)
type: Population
allele count: 38
allele frequency: 5.787389582698751e-3
allele num: 6566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.595e1

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.36e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.336e0

DP
type: SiteQuality
SIO_000300: 1.807342e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2124
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GenotypeQuality
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GenotypeQuality
all individuals: 31833
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 531
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GenotypeQuality
all individuals: 730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529285823520416e-5
allele num: 65390
num of homozygotes: 0

MQRankSum
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SIO_000300: -2.189e0

FS
type: SiteQuality
SIO_000300: 2.403e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
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SIO_000300: 2.43e0

DP
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SIO_000300: 1.7103e6

QD
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SIO_000300: 9.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.495e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.284e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.204995244085791e-5
allele num: 65182
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
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SIO_000300: 4.288e0

QD
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ClippingRankSum
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SIO_000300: -5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.639749e6

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534165874014298e-5
allele num: 65182
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.687e1

FS
type: SiteQuality
SIO_000300: 4.288e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

DP
type: SiteQuality
SIO_000300: 1.639749e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 2830
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551927493947483e-5
allele num: 64436
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.116e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.082e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 1.523367e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.238543472875898e-4
allele num: 8074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.151999999999999e0

DP
type: SiteQuality
SIO_000300: 1.48705e6

QD
type: SiteQuality
SIO_000300: 1.853e1

VQSLOD
type: SiteQuality
SIO_000300: -7.502e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
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SIO_000300: 5.888e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.651527663088357e-5
allele num: 60550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.154e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.763e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.013e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 22
allele frequency: 1.43453312467397e-3
allele num: 15336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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QD
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SIO_000300: 1.301e1

FS
type: SiteQuality
SIO_000300: 1.546e0

InbreedingCoeff
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SIO_000300: -1.8e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 333

GenotypeQuality
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variant carriers: 4

Other
type: Population
allele count: 1
allele frequency: 1.231527093596059e-3
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 157
allele frequency: 2.578758910679675e-3
allele num: 60882
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 8.763388510223953e-4
allele num: 10270
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.625441696113075e-4
allele num: 9056
num of homozygotes: 0

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

South Asian
type: Population
allele count: 157
allele frequency: 1.020540821632865e-2
allele num: 15384
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.928640308582449e-3
allele num: 6222
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
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SIO_000300: 2.89e0

VQSLOD
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

DP
type: SiteQuality
SIO_000300: 1.352332e6

QD
type: SiteQuality
SIO_000300: 1.459e1

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

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.256692503093858e-5
allele num: 61412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15434
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

DP
type: SiteQuality
SIO_000300: 1.409383e6

QD
type: SiteQuality
SIO_000300: 1.262e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.656e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

GenotypeQuality
all individuals: 577
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.614100784452981e-5
allele num: 61954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.442969e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.698e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30636
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608441098886959e-5
allele num: 62172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15542
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

FS
type: SiteQuality
SIO_000300: 4.467e0

QD
type: SiteQuality
SIO_000300: 1.158e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.455319e6

GenotypeQuality
all individuals: 156
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
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GenotypeQuality
all individuals: 2464
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.434178355424013e-5
allele num: 15542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.985e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

QD
type: SiteQuality
SIO_000300: 1.678e1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e0

DP
type: SiteQuality
SIO_000300: 1.461845e6

GenotypeQuality
all individuals: 127
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2253
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1426
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variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.087902523933855e-4
allele num: 9192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

FS
type: SiteQuality
SIO_000300: 3.081e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.248e1

DP
type: SiteQuality
SIO_000300: 1.470898e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.259452411994785e-4
allele num: 9204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.04e-1

DP
type: SiteQuality
SIO_000300: 1.482987e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.01e-1

FS
type: SiteQuality
SIO_000300: 2.344e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.864e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

QD
type: SiteQuality
SIO_000300: 1.535e1

GenotypeQuality
all individuals: 1727
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3414
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GenotypeQuality
all individuals: 441
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58267915928083e-5
allele num: 63184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15636
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.418e0

MQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e-1

FS
type: SiteQuality
SIO_000300: 2.896e0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

DP
type: SiteQuality
SIO_000300: 1.497698e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6472
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.727387330601954e-5
allele num: 63460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15658
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.099e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

DP
type: SiteQuality
SIO_000300: 1.509382e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.393e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.874e0

GenotypeDepth
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3425
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37352
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15912
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542257865515114e-5
allele num: 64840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.181e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

DP
type: SiteQuality
SIO_000300: 1.560115e6

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.884e0

FS
type: SiteQuality
SIO_000300: 1.0967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0