19-46355618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355618
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355618
    reference: chr 19
allele count: 3
allele frequency: 2.483978339708878e-5
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.251A>G
  hgvsp: ENSP00000245934.7:p.Lys84Arg
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.498A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.251A>G
  hgvsp: ENSP00000471770.1:p.Lys84Arg
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.251A>G
  hgvsp: ENSP00000471694.1:p.Lys84Arg
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.251A>G
  hgvsp: ENSP00000473136.1:p.Lys84Arg
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.336A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.350A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.338A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1466A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.251A>G
  hgvsp: ENSP00000469296.1:p.Lys84Arg
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys84Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

19-46355635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355635
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355635
    reference: chr 19
allele count: 9
allele frequency: 7.452058424138045e-5
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.234C>T
  hgvsp: ENST00000594293.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.319C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1449C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.234C>T
  hgvsp: ENST00000245934.7:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.321C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.234C>T
  hgvsp: ENST00000600237.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.481C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.234C>T
  hgvsp: ENST00000598059.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.333C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.234C>T
  hgvsp: ENST00000602061.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile78Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

19-46355642-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355642
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355642
    reference: chr 19
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.227A>G
  hgvsp: ENSP00000471694.1:p.Glu76Gly
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1442A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.227A>G
  hgvsp: ENSP00000473136.1:p.Glu76Gly
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.227A>G
  hgvsp: ENSP00000245934.7:p.Glu76Gly
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.227A>G
  hgvsp: ENSP00000469296.1:p.Glu76Gly
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.227A>G
  hgvsp: ENSP00000471770.1:p.Glu76Gly
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.326A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.474A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.314A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.312A>G
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 10623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu76Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

19-46355654-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355654
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355654
    reference: chr 19
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.473-11A>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.226-11A>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.325-11A>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.311-11A>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.226-11A>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.313-11A>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.226-11A>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.226-11A>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.226-11A>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1441-11A>C
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19846
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12725
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

19-46355656-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355656
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355656
    reference: chr 19
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.311-13C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.226-13C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1441-13C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.226-13C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.226-13C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.325-13C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.226-13C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.313-13C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.473-13C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.226-13C>G
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4999
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

19-46355666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355666
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355666
    reference: chr 19
allele count: 22
allele frequency: 1.82158411578651e-4
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.473-23C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.325-23C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.226-23C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.311-23C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.313-23C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.226-23C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.226-23C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.226-23C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.226-23C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1441-23C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

19-46355666-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355666
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355666
    reference: chr 19
allele count: 10
allele frequency: 8.279927799029592e-5
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.226-23C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.226-23C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.226-23C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.325-23C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.473-23C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.226-23C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.313-23C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1441-23C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.226-23C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.311-23C>G
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7018
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-46355667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355667
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355667
    reference: chr 19
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1441-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.325-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.226-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.313-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.311-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.226-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.226-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.226-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.226-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.473-24C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7020
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-46355668-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355668
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355668
    reference: chr 19
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.313-25T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1441-25T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.311-25T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.226-25T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.226-25T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.226-25T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.226-25T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.473-25T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.226-25T>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.325-25T>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

19-46355676-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355676
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355676
    reference: chr 19
allele count: 2
allele frequency: 1.655958137378287e-5
allele num: 120776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.226-33A>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.313-33A>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.325-33A>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.473-33A>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.226-33A>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.226-33A>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.311-33A>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.226-33A>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.226-33A>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1441-33A>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

19-46355676-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355676
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355676
    reference: chr 19
allele count: 2
allele frequency: 1.655958137378287e-5
allele num: 120776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.226-33A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.473-33A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.226-33A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.313-33A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.226-33A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.226-33A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1441-33A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.226-33A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.325-33A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.311-33A>G
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-46355687-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355687
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355687
    reference: chr 19
allele count: 3
allele frequency: 2.483978339708878e-5
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.226-44G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.311-44G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.226-44G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.325-44G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.226-44G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.226-44G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1441-44G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.473-44G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.226-44G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.313-44G>C
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-46355690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355690
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355690
    reference: chr 19
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.226-47G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.226-47G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.226-47G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.313-47G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.325-47G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1441-47G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.311-47G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.226-47G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.226-47G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.473-47G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

19-46355691-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355691
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355691
    reference: chr 19
allele count: 2
allele frequency: 1.655985559805918e-5
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.226-48T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.311-48T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.325-48T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1441-48T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.313-48T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.473-48T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.226-48T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.226-48T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.226-48T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.226-48T>C
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12729
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

19-46355698-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355698
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355698
    reference: chr 19
allele count: 9
allele frequency: 7.451935019126633e-5
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.225+42A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1440+42A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.310+42A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.472+42A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.225+42A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.225+42A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.225+42A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.225+42A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.312+42A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.324+42A>G
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-46355711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355711
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355711
    reference: chr 19
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1440+29G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.225+29G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.324+29G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.225+29G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.310+29G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.225+29G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.312+29G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.472+29G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.225+29G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.225+29G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-46355713-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355713
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355713
    reference: chr 19
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.324+27G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.225+27G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.312+27G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.225+27G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.310+27G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1440+27G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.225+27G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.225+27G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.472+27G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.225+27G>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/19-46355714-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355714
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355714
    reference: chr 19
allele count: 63
allele frequency: 5.216354513388643e-4
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.225+26G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.225+26G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.225+26G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1440+26G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.225+26G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.472+26G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.312+26G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.310+26G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.324+26G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.225+26G>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

19-46355716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355716
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355716
    reference: chr 19
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.225+24G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.472+24G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.310+24G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.225+24G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.324+24G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.225+24G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.225+24G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.312+24G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.225+24G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1440+24G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-46355727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355727
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355727
    reference: chr 19
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.225+13C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.324+13C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.225+13C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.225+13C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.225+13C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.310+13C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.312+13C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1440+13C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.225+13C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.472+13C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-46355731-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355731
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355731
    reference: chr 19
allele count: 3
allele frequency: 2.484019474712682e-5
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.225+9C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.225+9C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.225+9C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.312+9C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.472+9C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.225+9C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.324+9C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.310+9C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.225+9C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1440+9C>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-46355733-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355733
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355733
    reference: chr 19
allele count: 5
allele frequency: 4.14003245785447e-5
allele num: 120772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.310+7G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.225+7G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.225+7G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.225+7G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.312+7G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.472+7G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.324+7G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.225+7G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.225+7G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1440+7G>C
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: c.225+7G>C
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

19-46355757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355757
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355757
    reference: chr 19
allele count: 2
allele frequency: 1.656012983141788e-5
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.208C>T
  hgvsp: ENST00000602061.1:c.208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.208C>T
  hgvsp: ENST00000600237.1:c.208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.208C>T
  hgvsp: ENST00000245934.7:c.208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.307C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.455C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.295C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.208C>T
  hgvsp: ENST00000594293.1:c.208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.208C>T
  hgvsp: ENST00000598059.1:c.208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1423C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.293C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12770
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu70Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

19-46355761-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355761
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355761
    reference: chr 19
allele count: 4
allele frequency: 3.312025966283576e-5
allele num: 120772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.204A>G
  hgvsp: ENST00000602061.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1419A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.291A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.451A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.289A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.204A>G
  hgvsp: ENST00000245934.7:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.303A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.204A>G
  hgvsp: ENST00000600237.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.204A>G
  hgvsp: ENST00000598059.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.204A>G
  hgvsp: ENST00000594293.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr68Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

19-46355772-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355772
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355772
    reference: chr 19
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.440A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.193A>G
  hgvsp: ENSP00000245934.7:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1408A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.193A>G
  hgvsp: ENSP00000471770.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.193A>G
  hgvsp: ENSP00000471694.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.280A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.278A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.193A>G
  hgvsp: ENSP00000473136.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.292A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.193A>G
  hgvsp: ENSP00000469296.1:p.Lys65Glu
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys65Glu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-46355789-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355789
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355789
    reference: chr 19
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.261A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1391A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.176A>G
  hgvsp: ENSP00000471694.1:p.Gln59Arg
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.423A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.263A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.176A>G
  hgvsp: ENSP00000469296.1:p.Gln59Arg
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.176A>G
  hgvsp: ENSP00000245934.7:p.Gln59Arg
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.275A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.176A>G
  hgvsp: ENSP00000473136.1:p.Gln59Arg
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.176A>G
  hgvsp: ENSP00000471770.1:p.Gln59Arg
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln59Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

19-46355796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355796
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355796
    reference: chr 19
allele count: 7
allele frequency: 5.796813408857531e-5
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-3C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-3C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-3C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-3C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-3C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-3C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-3C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-3C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-3C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-3C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: c.172-3C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-46355806-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355806
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355806
    reference: chr 19
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-13A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-13A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-13A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-13A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-13A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-13A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-13A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-13A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-13A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-13A>G
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

19-46355809-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355809
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355809
    reference: chr 19
allele count: 3
allele frequency: 2.484718978283556e-5
allele num: 120738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-16C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-16C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-16C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-16C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-16C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-16C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-16C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-16C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-16C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-16C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

19-46355810-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355810
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355810
    reference: chr 19
allele count: 2
allele frequency: 1.656479318855704e-5
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-17C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-17C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-17C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-17C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-17C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-17C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-17C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-17C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-17C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-17C>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4995
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

19-46355811-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355811
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355811
    reference: chr 19
allele count: 3
allele frequency: 2.484760137821362e-5
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-18C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-18C>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

19-46355815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355815
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355815
    reference: chr 19
allele count: 2
allele frequency: 1.656643970644269e-5
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-22C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11460
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10623
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-46355819-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355819
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355819
    reference: chr 19
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-26C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-26C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-26C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-26C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-26C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-26C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-26C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-26C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-26C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-26C>G
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10615
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

19-46355832-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355832
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355832
    reference: chr 19
allele count: 106
allele frequency: 8.784287726858374e-4
allele num: 120670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-39T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-39T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-39T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-39T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-39T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-39T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-39T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-39T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-39T>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-39T>C
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13107
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10435
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-46355833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355833
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355833
    reference: chr 19
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-40A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-40A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-40A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-40A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-40A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-40A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-40A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-40A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-40A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-40A>G
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19681
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-46355835-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355835
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355835
    reference: chr 19
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-42T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-42T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-42T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-42T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-42T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-42T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-42T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-42T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-42T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-42T>G
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

19-46355838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355838
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355838
    reference: chr 19
allele count: 2
allele frequency: 1.658319790388379e-5
allele num: 120604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-45G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-45G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-45G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-45G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-45G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-45G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-45G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-45G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-45G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-45G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-46355839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46355839
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46355839
    reference: chr 19
allele count: 5
allele frequency: 4.146624647536905e-5
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.172-46C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.172-46C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1387-46C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.172-46C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.271-46C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.259-46C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.172-46C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.172-46C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.419-46C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.257-46C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9827
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-46357399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357399
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357399
    reference: chr 19
allele count: 2
allele frequency: 1.659310390601666e-5
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.171+34G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.270+34G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.171+34G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.171+34G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.256+34G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.258+34G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1386+34G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.171+34G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.171+34G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.418+34G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

19-46357405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357405
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357405
    reference: chr 19
allele count: 106
allele frequency: 8.794053228910865e-4
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.258+28G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.171+28G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1386+28G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.256+28G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.270+28G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.171+28G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.171+28G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.171+28G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.171+28G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.418+28G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11734
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 10550
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5550
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-46357412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357412
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357412
    reference: chr 19
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.171+21C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.171+21C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.256+21C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.171+21C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1386+21C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.171+21C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.258+21C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.270+21C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.418+21C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.171+21C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-46357416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357416
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357416
    reference: chr 19
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.171+17C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.171+17C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1386+17C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.270+17C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.418+17C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.171+17C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.256+17C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.171+17C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.258+17C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.171+17C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

19-46357416-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357416
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357417
    reference: chr 19
allele count: 6
allele frequency: 4.978426817125788e-5
allele num: 120520
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.270+16dupG
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.171+16dupG
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.258+16dupG
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.171+16dupG
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.171+16dupG
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.171+16dupG
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.171+16dupG
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.418+16dupG
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1386+16dupG
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.256+16dupG
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5571
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-46357417-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357417
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357417
    reference: chr 19
allele count: 1
allele frequency: 8.299030673217368e-6
allele num: 120496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.171+16G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.270+16G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.171+16G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.171+16G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.256+16G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.171+16G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.258+16G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1386+16G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.171+16G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.418+16G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

19-46357422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357422
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357422
    reference: chr 19
allele count: 3
allele frequency: 2.487850994311114e-5
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.171+11G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.270+11G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.171+11G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.258+11G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.256+11G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.171+11G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1386+11G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.418+11G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.171+11G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.171+11G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

19-46357424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357424
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357424
    reference: chr 19
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.256+9C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.171+9C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.270+9C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.171+9C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.171+9C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.258+9C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.171+9C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.171+9C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.418+9C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1386+9C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22971
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-46357428-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357428
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357428
    reference: chr 19
allele count: 2
allele frequency: 1.658402295228776e-5
allele num: 120598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1386+5G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.171+5G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.418+5G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.256+5G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.171+5G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.171+5G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.258+5G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.171+5G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.171+5G>C
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.270+5G>C
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: c.171+5G>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-46357430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357430
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357430
    reference: chr 19
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.258+3G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.270+3G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.171+3G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.171+3G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1386+3G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.256+3G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.171+3G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.171+3G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.171+3G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.418+3G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8701
  bin: 6.25e1
  variant carriers: 0
hgvs: c.171+3G>A
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-46357456-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357456
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357456
    reference: chr 19
allele count: 4
allele frequency: 3.315704835955503e-5
allele num: 120638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.247T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1363T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.148T>G
  hgvsp: ENSP00000245934.7:p.Ser50Ala
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.235T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.395T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.148T>G
  hgvsp: ENSP00000471770.1:p.Ser50Ala
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.148T>G
  hgvsp: ENSP00000473136.1:p.Ser50Ala
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.148T>G
  hgvsp: ENSP00000469296.1:p.Ser50Ala
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.233T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.148T>G
  hgvsp: ENSP00000470977.1:p.Ser50Ala
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.148T>G
  hgvsp: ENSP00000471694.1:p.Ser50Ala
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser50Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

19-46357461-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357461
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357461
    reference: chr 19
allele count: 4
allele frequency: 3.315594900615043e-5
allele num: 120642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.143A>G
  hgvsp: ENSP00000473136.1:p.Asn48Ser
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.230A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.143A>G
  hgvsp: ENSP00000471694.1:p.Asn48Ser
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.143A>G
  hgvsp: ENSP00000471770.1:p.Asn48Ser
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.143A>G
  hgvsp: ENSP00000245934.7:p.Asn48Ser
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1358A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.143A>G
  hgvsp: ENSP00000469296.1:p.Asn48Ser
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.143A>G
  hgvsp: ENSP00000470977.1:p.Asn48Ser
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.390A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.228A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.242A>G
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn48Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-46357472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357472
    reference: chr 19
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.379G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.217G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.231G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.132G>A
  hgvsp: ENST00000600237.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.132G>A
  hgvsp: ENST00000601600.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1347G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.132G>A
  hgvsp: ENST00000594293.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.132G>A
  hgvsp: ENST00000598059.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.219G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.132G>A
  hgvsp: ENST00000245934.7:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.132G>A
  hgvsp: ENST00000602061.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala44Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

19-46357473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357473
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357473
    reference: chr 19
allele count: 2
allele frequency: 1.657907389293234e-5
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.131C>T
  hgvsp: ENSP00000473136.1:p.Ala44Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1346C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.131C>T
  hgvsp: ENSP00000245934.7:p.Ala44Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.230C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.131C>T
  hgvsp: ENSP00000471694.1:p.Ala44Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.131C>T
  hgvsp: ENSP00000471770.1:p.Ala44Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.131C>T
  hgvsp: ENSP00000470977.1:p.Ala44Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.216C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.378C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.131C>T
  hgvsp: ENSP00000469296.1:p.Ala44Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.218C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala44Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-46357476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357476
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357476
    reference: chr 19
allele count: 2
allele frequency: 1.657852417977751e-5
allele num: 120638
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.128C>T
  hgvsp: ENSP00000245934.7:p.Ala43Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.213C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.375C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.128C>T
  hgvsp: ENSP00000470977.1:p.Ala43Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.128C>T
  hgvsp: ENSP00000469296.1:p.Ala43Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.128C>T
  hgvsp: ENSP00000473136.1:p.Ala43Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.128C>T
  hgvsp: ENSP00000471770.1:p.Ala43Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1343C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.227C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.128C>T
  hgvsp: ENSP00000471694.1:p.Ala43Val
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.215C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala43Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-46357484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357484
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357484
    reference: chr 19
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.120G>A
  hgvsp: ENST00000600237.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.120G>A
  hgvsp: ENST00000594293.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.120G>A
  hgvsp: ENST00000598059.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.120G>A
  hgvsp: ENST00000602061.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.205G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.120G>A
  hgvsp: ENST00000245934.7:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1335G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.367G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.207G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.120G>A
  hgvsp: ENST00000601600.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.219G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8862
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu40Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-46357508-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357508
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357508
    reference: chr 19
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-10C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-10C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-10C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-10C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.343C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-10C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-10C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-10C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-10C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-10C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-10C>G
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-46357509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357509
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357509
    reference: chr 19
allele count: 2
allele frequency: 1.658457303016734e-5
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-11C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-11C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-11C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-11C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-11C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-11C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.342C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-11C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-11C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-11C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-11C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-46357511-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357511
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357511
    reference: chr 19
allele count: 2
allele frequency: 1.658319790388379e-5
allele num: 120604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-13C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-13C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-13C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-13C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-13C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.340C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-13C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-13C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-13C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-13C>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-13C>A
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-46357513-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357513
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357513
    reference: chr 19
allele count: 2
allele frequency: 1.658512314453935e-5
allele num: 120590
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-15T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-15T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-15T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-15T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-15T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.338T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-15T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-15T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-15T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-15T>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-15T>G
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-46357518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357518
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357518
    reference: chr 19
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-20G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-20G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.333G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-20G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-20G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-20G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-20G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-20G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-20G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-20G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-20G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11594
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

19-46357520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357520
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357520
    reference: chr 19
allele count: 4
allele frequency: 3.317354741329264e-5
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.331C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-22C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-22C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22932
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

19-46357520-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357520
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357520
    reference: chr 19
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-22C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-22C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-22C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-22C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-22C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-22C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.331C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-22C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-22C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-22C>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-22C>G
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

19-46357522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357522
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357522
    reference: chr 19
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.329C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-24C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-24C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-46357525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357525
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357525
    reference: chr 19
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-27A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-27A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-27A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-27A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-27A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.326A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-27A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-27A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-27A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-27A>G
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-27A>G
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

19-46357527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357527
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357527
    reference: chr 19
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-29C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-29C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-29C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-29C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-29C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-29C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-29C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-29C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.324C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-29C>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-29C>T
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10458
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6314
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

19-46357530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357530
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357530
    reference: chr 19
allele count: 23
allele frequency: 1.909252403167699e-4
allele num: 120466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-32G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-32G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-32G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.321G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-32G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-32G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-32G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-32G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-32G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-32G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-32G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10248
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-46357535-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357535
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357535
    reference: chr 19
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-37G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-37G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-37G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-37G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-37G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-37G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.316G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-37G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-37G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-37G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-37G>T
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-46357540-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357540
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357540
    reference: chr 19
allele count: 11
allele frequency: 9.129842966700973e-5
allele num: 120484
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-42G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-42G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-42G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-42G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-42G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-42G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-42G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.311G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-42G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-42G>T
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-42G>T
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8671
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5621
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

19-46357540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357540
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357540
    reference: chr 19
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  hgvsc: ENST00000600237.1:c.106-42G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  hgvsc: ENST00000594293.1:c.106-42G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  hgvsc: ENST00000601600.1:c.106-42G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  hgvsc: ENST00000599814.1:n.1321-42G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  hgvsc: ENST00000593504.1:n.205-42G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471694
  ensembl transcript: ENST00000598059
  gene symbol: SYMPK
  hgvsc: ENST00000598059.1:c.106-42G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  hgvsc: ENST00000593959.1:n.311G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  hgvsc: ENST00000602061.1:c.106-42G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  hgvsc: ENST00000245934.7:c.106-42G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  hgvsc: ENST00000598896.1:n.193-42G>A
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  hgvsc: ENST00000599460.1:n.191-42G>A
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

19-46357540-CCAGCCCAGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46357540
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46357530
    reference: chr 19
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000469296
  ensembl transcript: ENST00000602061
  gene symbol: SYMPK
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000470977
  ensembl transcript: ENST00000601600
  gene symbol: SYMPK
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000471770
  ensembl transcript: ENST00000594293
  gene symbol: SYMPK
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000473136
  ensembl transcript: ENST00000600237
  gene symbol: SYMPK
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000598896
  gene symbol: SYMPK
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599814
  gene symbol: SYMPK
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593959
  gene symbol: SYMPK
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000593504
  gene symbol: SYMPK
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl transcript: ENST00000599460
  gene symbol: SYMPK
  variant of: http://identifiers.org/hgnc/22935
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125755
  ensembl protein: ENSP00000245934
  ensembl transcript: ENST00000245934
  gene symbol: SYMPK
  variant of: http://identifiers.org/hgnc/22935
canonical: false
consequence: non coding transcript exon
filter: PASS
num of homozygotes: 0
reference allele: CCAGCCCAGTG

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

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

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7009
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12706
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2563
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3550
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19894
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4019
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5652
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4992
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.322e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.602e0

MQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

DP
type: SiteQuality
SIO_000300: 2.395537e6

MQ
type: SiteQuality
SIO_000300: 5.988e1

GenotypeQuality
all individuals: 0
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
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variant carriers: 0

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
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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: 6.119951040391676e-4
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
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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VQSLOD
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

African
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allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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QD
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

South 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

Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

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

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

African
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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SIO_000300: 4.3e-1

FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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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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variant carriers: 22

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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: 1.332364341085271e-3
allele num: 16512
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 count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
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BaseQRankSum
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MQRankSum
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QD
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DP
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ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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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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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 8.990110878034162e-5
allele num: 66740
num of homozygotes: 0

African
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South Asian
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
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Latino
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European (Finnish)
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DP
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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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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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
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num of homozygotes: 0

African
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East Asian
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Latino
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European (Finnish)
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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FS
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DP
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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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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11576
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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allele frequency: 0.0e0
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East Asian
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DP
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ClippingRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Latino
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

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

South Asian
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African
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European (Non-Finnish)
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East Asian
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Other
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Latino
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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FS
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QD
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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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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Other
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Latino
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allele frequency: 6.046993780234969e-4
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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East Asian
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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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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Latino
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Other
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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QD
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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Latino
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.698e1

QD
type: SiteQuality
SIO_000300: 1.361e1

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2565
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5005
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12749
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7022
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4019
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19817
bin: 9.75e1
variant carriers: 62

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 7.791429427629607e-4
allele num: 66740
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.844961240310077e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

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: 900
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.333e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.06e-2

DP
type: SiteQuality
SIO_000300: 2.391933e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.445e0

VQSLOD
type: SiteQuality
SIO_000300: 5.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

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

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

GenotypeQuality
all individuals: 12754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5658
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5007
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19791
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4023
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

DP
type: SiteQuality
SIO_000300: 2.387995e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.711e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.209e0

FS
type: SiteQuality
SIO_000300: 2.926e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.595e1

GenotypeQuality
all individuals: 3547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19790
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5008
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2566
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12760
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.38789e6

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.616e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 7027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 3548
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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: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

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

GenotypeQuality
all individuals: 12761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19789
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5657
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2565
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.333e0

FS
type: SiteQuality
SIO_000300: 2.721e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.989e1

DP
type: SiteQuality
SIO_000300: 2.387855e6

QD
type: SiteQuality
SIO_000300: 1.508e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.195e0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5008
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

GenotypeQuality
all individuals: 4023
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variant carriers: 0

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

GenotypeQuality
all individuals: 5658
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 7025
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variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 12765
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19787
bin: 9.75e1
variant carriers: 5

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.387744e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

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

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

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

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

GenotypeQuality
all individuals: 7026
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 19784
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variant carriers: 2

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 4023
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5005
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variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 2.38737e6

FS
type: SiteQuality
SIO_000300: 3.766e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.083e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.589e0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeQuality
all individuals: 19784
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7026
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GenotypeQuality
all individuals: 2562
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.076e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.154e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 1.5188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.387422e6

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5005
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GenotypeQuality
all individuals: 2562
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.213e0

FS
type: SiteQuality
SIO_000300: 4.02e0

QD
type: SiteQuality
SIO_000300: 1.308e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 2.387067e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5652
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19779
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2561
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.213e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

DP
type: SiteQuality
SIO_000300: 2.386514e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: -7.631e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 9.750999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.552e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

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

GenotypeQuality
all individuals: 7019
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048972007432716e-4
allele num: 66732
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

QD
type: SiteQuality
SIO_000300: 1.427e1

FS
type: SiteQuality
SIO_000300: 6.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 2.386548e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5642
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.223e1

DP
type: SiteQuality
SIO_000300: 2.384786e6

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.929e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -3.326e-1

FS
type: SiteQuality
SIO_000300: 6.62e-1

MQ
type: SiteQuality
SIO_000300: 5.886e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.97e-1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6983
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

FS
type: SiteQuality
SIO_000300: 3.809e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 2.383843e6

QD
type: SiteQuality
SIO_000300: 1.371e1

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.163e1

FS
type: SiteQuality
SIO_000300: 2.255e0

DP
type: SiteQuality
SIO_000300: 2.383633e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 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: 8626
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

FS
type: SiteQuality
SIO_000300: 8.56e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.382961e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
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: 8626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.308e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.381401e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.141e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.228e1

VQSLOD
type: SiteQuality
SIO_000300: -2.503e-1

DP
type: SiteQuality
SIO_000300: 2.379226e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: -1.038e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.856e0

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

GenotypeQuality
all individuals: 4911
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5499
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variant carriers: 0

GenotypeQuality
all individuals: 19744
bin: 9.75e1
variant carriers: 105

GenotypeQuality
all individuals: 20
bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 99
allele frequency: 1.01123595505618e-2
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.194805194805195e-4
allele num: 11550
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

QD
type: SiteQuality
SIO_000300: 1.564e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

DP
type: SiteQuality
SIO_000300: 2.353602e6

GenotypeQuality
all individuals: 531
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 364
bin: 4.25e1
variant carriers: 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: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.117e0

QD
type: SiteQuality
SIO_000300: 1.587e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.3494e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 2.143e0

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

GenotypeQuality
all individuals: 5489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
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variant carriers: 0

GenotypeQuality
all individuals: 486
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6440
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3970
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.601e0

VQSLOD
type: SiteQuality
SIO_000300: -1.432e0

QD
type: SiteQuality
SIO_000300: 1.949e1

FS
type: SiteQuality
SIO_000300: 6.389e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 2.342528e6

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 5449
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 538
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 652
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1115
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variant carriers: 0

GenotypeQuality
all individuals: 6223
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variant carriers: 0

GenotypeQuality
all individuals: 4881
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19677
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3353
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variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 2.333431e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

QD
type: SiteQuality
SIO_000300: 1.74e1

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 4879
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 307
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19675
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variant carriers: 5

GenotypeQuality
all individuals: 1254
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 2506
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variant carriers: 0

GenotypeQuality
all individuals: 285
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variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.779e0

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.622e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

DP
type: SiteQuality
SIO_000300: 2.330467e6

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6429
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 8195
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variant carriers: 0

GenotypeQuality
all individuals: 84
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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
all individuals: 183
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
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: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -1.849e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.515e0

DP
type: SiteQuality
SIO_000300: 2.437067e6

FS
type: SiteQuality
SIO_000300: 1.2431e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: -9.89e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 69
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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: 106

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4539
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GenotypeQuality
all individuals: 63
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.193905817174516e-4
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 99
allele frequency: 1.013306038894575e-2
allele num: 9770
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

QD
type: SiteQuality
SIO_000300: 1.462e1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.194e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.949e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 2.440642e6

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
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GenotypeQuality
all individuals: 2756
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variant carriers: 0

GenotypeQuality
all individuals: 150
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 109
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GenotypeQuality
all individuals: 5573
bin: 7.75e1
variant carriers: 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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.438613e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.413e1

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.038e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.632e0

MQ
type: SiteQuality
SIO_000300: 5.827e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.033e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5571
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22952
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2752
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.024590163934426e-4
allele num: 9760
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 6.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

DP
type: SiteQuality
SIO_000300: 2.440151e6

GenotypeQuality
all individuals: 146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8444
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.049180327868852e-4
allele num: 9760
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505992970650966e-5
allele num: 66578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.440151e6

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6501
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4548
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.725e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 2.440795e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.192e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 3578
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22972
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
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: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.253e0

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 2.440145e6

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

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
all individuals: 52
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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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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
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: 11560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.284e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

DP
type: SiteQuality
SIO_000300: 2.44032e6

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
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: 16506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.320724065908564e-4
allele num: 8618
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.329e0

FS
type: SiteQuality
SIO_000300: 1.588e0

DP
type: SiteQuality
SIO_000300: 2.440835e6

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5591
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.96e0

DP
type: SiteQuality
SIO_000300: 2.440955e6

QD
type: SiteQuality
SIO_000300: 8.15e0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22970
bin: 9.75e1
variant carriers: 4

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

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

African
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allele frequency: 4.092490280335584e-4
allele num: 9774
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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East Asian
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Other
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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DP
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MQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.955e1

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

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

East Asian
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allele num: 8622
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Latino
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allele num: 11562
num of homozygotes: 0

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

Other
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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: 2.999940001199976e-5
allele num: 66668
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QD
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

Other
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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MQRankSum
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SIO_000300: 2.81e-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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

African
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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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num of homozygotes: 0

South Asian
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allele num: 16508
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
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allele count: 0
allele frequency: 0.0e0
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MQ
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SIO_000300: 5.941e1

QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 1.0603e1

InbreedingCoeff
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SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

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

East Asian
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allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

European (Finnish)
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allele num: 6612
num of homozygotes: 0

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

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

South Asian
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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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

African
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num of homozygotes: 0

South Asian
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allele num: 16506
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East Asian
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allele num: 8622
num of homozygotes: 0

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

Latino
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Other
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num of homozygotes: 0

European (Finnish)
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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FS
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MQRankSum
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BaseQRankSum
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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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East Asian
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African
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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allele num: 66634
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Other
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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QD
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MQ
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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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variant carriers: 0

South Asian
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allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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Other
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Latino
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African
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East Asian
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MQ
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BaseQRankSum
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QD
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

Other
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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: 9778
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

East Asian
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allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

BaseQRankSum
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SIO_000300: -4.445e0

QD
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SIO_000300: 9.390000000000001e0

FS
type: SiteQuality
SIO_000300: 2.953e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

DP
type: SiteQuality
SIO_000300: 2.435467e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
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SIO_000300: 7.1e-3

ReadPosRankSum
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SIO_000300: -1.4e-2

FS
type: SiteQuality
SIO_000300: 7.68e-1

QD
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MQRankSum
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SIO_000300: -6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.05e0

DP
type: SiteQuality
SIO_000300: 2.435444e6

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9782
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

Latino
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allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66620
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

FS
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SIO_000300: 6.004e0

ClippingRankSum
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SIO_000300: -5.53e-1

BaseQRankSum
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SIO_000300: -4.6e-1

DP
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SIO_000300: 2.430457e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.582e0

QD
type: SiteQuality
SIO_000300: 3.042e1

MQ
type: SiteQuality
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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variant carriers: 0

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

African
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.005104338687885e-5
allele num: 66610
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.428743e6

ReadPosRankSum
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SIO_000300: 8.99e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 6.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

East Asian
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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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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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
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African
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allele frequency: 1.02291325695581e-4
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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QD
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DP
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11558
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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East Asian
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allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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FS
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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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variant carriers: 0

South Asian
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allele count: 0
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num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.45e-2

FS
type: SiteQuality
SIO_000300: 3.018e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 2.42274e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

GenotypeQuality
all individuals: 963
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4463
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22869
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 364
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4953
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5533
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 20
allele frequency: 2.049600327936052e-3
allele num: 9758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
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: 2
allele frequency: 3.00507858280494e-5
allele num: 66554
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.408241e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.277e0

FS
type: SiteQuality
SIO_000300: 7.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.396e1

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

GenotypeQuality
all individuals: 5568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5028
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4462
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7685
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22852
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 430
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3086
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.024380249948781e-4
allele num: 9762
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: 66544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.45e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.967e0

VQSLOD
type: SiteQuality
SIO_000300: -1.338e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.403019e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

GenotypeQuality
all individuals: 525
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4947
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22858
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8485
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.352122832847571e-4
allele num: 66562
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.401726e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.785e0

QD
type: SiteQuality
SIO_000300: 1.458e1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22858
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4947
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5621
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.458e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.785e0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

DP
type: SiteQuality
SIO_000300: 2.401726e6