3-123419672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419672
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419672
    reference: chr 3
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2643G>A
  hgvsp: ENST00000360772.3:c.2643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2643G>A
  hgvsp: ENST00000360304.3:c.2643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2436G>A
  hgvsp: ENST00000346322.5:c.2436G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2643G>A
  hgvsp: ENST00000359169.1:c.2643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2222G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.201G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2643G>A
  hgvsp: ENST00000475616.1:c.2643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln881Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

3-123419678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419678
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419678
    reference: chr 3
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.195G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2637G>A
  hgvsp: ENST00000360304.3:c.2637G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2216G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2430G>A
  hgvsp: ENST00000346322.5:c.2430G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2637G>A
  hgvsp: ENST00000360772.3:c.2637G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2637G>A
  hgvsp: ENST00000359169.1:c.2637G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2637G>A
  hgvsp: ENST00000475616.1:c.2637G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11538
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr879Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-123419681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419681
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419681
    reference: chr 3
allele count: 2
allele frequency: 1.652155236506022e-5
allele num: 121054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2634G>A
  hgvsp: ENST00000359169.1:c.2634G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.192G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2634G>A
  hgvsp: ENST00000475616.1:c.2634G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2427G>A
  hgvsp: ENST00000346322.5:c.2427G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2634G>A
  hgvsp: ENST00000360772.3:c.2634G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2634G>A
  hgvsp: ENST00000360304.3:c.2634G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2213G>A
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu878Glu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

3-123419684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419684
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419684
    reference: chr 3
allele count: 8
allele frequency: 6.608839322593969e-5
allele num: 121050
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2631G>A
  hgvsp: ENST00000360304.3:c.2631G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2210G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2424G>A
  hgvsp: ENST00000346322.5:c.2424G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2631G>A
  hgvsp: ENST00000360772.3:c.2631G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2631G>A
  hgvsp: ENST00000475616.1:c.2631G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2631G>A
  hgvsp: ENST00000359169.1:c.2631G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.189G>A
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11537
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val877Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-123419686-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419686
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419686
    reference: chr 3
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2629G>T
  hgvsp: ENSP00000418335.1:p.Val877Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2629G>T
  hgvsp: ENSP00000354004.3:p.Val877Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2629G>T
  hgvsp: ENSP00000353452.3:p.Val877Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2208G>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2629G>T
  hgvsp: ENSP00000352088.1:p.Val877Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.187G>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2422G>T
  hgvsp: ENSP00000320622.5:p.Val808Leu
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11531
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val877Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-123419686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419686
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419686
    reference: chr 3
allele count: 26
allele frequency: 2.148227712137487e-4
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2629G>A
  hgvsp: ENSP00000353452.3:p.Val877Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2629G>A
  hgvsp: ENSP00000418335.1:p.Val877Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2208G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2629G>A
  hgvsp: ENSP00000352088.1:p.Val877Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.187G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2629G>A
  hgvsp: ENSP00000354004.3:p.Val877Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2422G>A
  hgvsp: ENSP00000320622.5:p.Val808Met
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val877Met
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-123419687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419687
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419687
    reference: chr 3
allele count: 133
allele frequency: 1.099028227672374e-3
allele num: 121016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2421C>T
  hgvsp: ENST00000346322.5:c.2421C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2628C>T
  hgvsp: ENST00000360772.3:c.2628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2628C>T
  hgvsp: ENST00000360304.3:c.2628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2628C>T
  hgvsp: ENST00000359169.1:c.2628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.186C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2207C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2628C>T
  hgvsp: ENST00000475616.1:c.2628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 9.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg876Arg
num of homozygotes: 1
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-123419688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419688
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419688
    reference: chr 3
allele count: 10
allele frequency: 8.263506701703935e-5
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.185G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2627G>A
  hgvsp: ENSP00000418335.1:p.Arg876His
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2206G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2627G>A
  hgvsp: ENSP00000352088.1:p.Arg876His
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2420G>A
  hgvsp: ENSP00000320622.5:p.Arg807His
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2627G>A
  hgvsp: ENSP00000354004.3:p.Arg876His
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2627G>A
  hgvsp: ENSP00000353452.3:p.Arg876His
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg876His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-123419689-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419689
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419689
    reference: chr 3
allele count: 4
allele frequency: 3.30622231038815e-5
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2626C>T
  hgvsp: ENSP00000418335.1:p.Arg876Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.184C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2626C>T
  hgvsp: ENSP00000352088.1:p.Arg876Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2626C>T
  hgvsp: ENSP00000353452.3:p.Arg876Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2626C>T
  hgvsp: ENSP00000354004.3:p.Arg876Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2419C>T
  hgvsp: ENSP00000320622.5:p.Arg807Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2205C>T
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg876Cys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

3-123419709-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419709
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419709
    reference: chr 3
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2399T>C
  hgvsp: ENSP00000320622.5:p.Val800Ala
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2606T>C
  hgvsp: ENSP00000353452.3:p.Val869Ala
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2606T>C
  hgvsp: ENSP00000352088.1:p.Val869Ala
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2185T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.164T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2606T>C
  hgvsp: ENSP00000354004.3:p.Val869Ala
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2606T>C
  hgvsp: ENSP00000418335.1:p.Val869Ala
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7264
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val869Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-123419710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419710
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419710
    reference: chr 3
allele count: 2
allele frequency: 1.660798511924533e-5
allele num: 120424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2605G>A
  hgvsp: ENSP00000418335.1:p.Val869Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.163G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2605G>A
  hgvsp: ENSP00000354004.3:p.Val869Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2605G>A
  hgvsp: ENSP00000353452.3:p.Val869Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2184G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2398G>A
  hgvsp: ENSP00000320622.5:p.Val800Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2605G>A
  hgvsp: ENSP00000352088.1:p.Val869Met
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11503
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val869Met
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

3-123419711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419711
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419711
    reference: chr 3
allele count: 3
allele frequency: 2.4919013207077e-5
allele num: 120390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2604C>T
  hgvsp: ENST00000359169.1:c.2604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2397C>T
  hgvsp: ENST00000346322.5:c.2397C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2604C>T
  hgvsp: ENST00000475616.1:c.2604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2604C>T
  hgvsp: ENST00000360772.3:c.2604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.162C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2183C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2604C>T
  hgvsp: ENST00000360304.3:c.2604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11501
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Asp868Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-123419717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419717
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419717
    reference: chr 3
allele count: 6
allele frequency: 4.990102962457792e-5
allele num: 120238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2598C>T
  hgvsp: ENST00000360772.3:c.2598C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2177C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2598C>T
  hgvsp: ENST00000360304.3:c.2598C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2391C>T
  hgvsp: ENST00000346322.5:c.2391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2598C>T
  hgvsp: ENST00000475616.1:c.2598C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.156C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2598C>T
  hgvsp: ENST00000359169.1:c.2598C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly866Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-123419718-C-CCGTCTTCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419718
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419727
    reference: chr 3
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: CCGTCTTCCT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsp: ENSP00000354004.3:p.Glu863_Asp865dup
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsp: ENSP00000418335.1:p.Glu863_Asp865dup
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsp: ENSP00000320622.5:p.Glu794_Asp796dup
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsp: ENSP00000353452.3:p.Glu863_Asp865dup
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.146_154dupAGGAAGACG
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsp: ENSP00000352088.1:p.Glu863_Asp865dup
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu863_Asp865dup
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-123419719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419719
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419719
    reference: chr 3
allele count: 2
allele frequency: 1.665223472990075e-5
allele num: 120104
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2596G>A
  hgvsp: ENSP00000353452.3:p.Gly866Ser
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2175G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2596G>A
  hgvsp: ENSP00000418335.1:p.Gly866Ser
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2389G>A
  hgvsp: ENSP00000320622.5:p.Gly797Ser
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2596G>A
  hgvsp: ENSP00000354004.3:p.Gly866Ser
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2596G>A
  hgvsp: ENSP00000352088.1:p.Gly866Ser
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.154G>A
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11494
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly866Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

3-123419720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419720
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419720
    reference: chr 3
allele count: 2
allele frequency: 1.665750503889527e-5
allele num: 120066
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2595C>T
  hgvsp: ENST00000360304.3:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2595C>T
  hgvsp: ENST00000475616.1:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2595C>T
  hgvsp: ENST00000360772.3:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2174C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2388C>T
  hgvsp: ENST00000346322.5:c.2388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.153C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2595C>T
  hgvsp: ENST00000359169.1:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp865Asp
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

3-123419726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419726
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419726
    reference: chr 3
allele count: 13
allele frequency: 1.085939588345362e-4
allele num: 119712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2589G>A
  hgvsp: ENST00000475616.1:c.2589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.147G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2589G>A
  hgvsp: ENST00000360772.3:c.2589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2382G>A
  hgvsp: ENST00000346322.5:c.2382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2589G>A
  hgvsp: ENST00000360304.3:c.2589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2589G>A
  hgvsp: ENST00000359169.1:c.2589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2168G>A
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 33213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu863Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-123419729-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419729
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419729
    reference: chr 3
allele count: 1
allele frequency: 8.360784576024614e-6
allele num: 119606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2586G>C
  hgvsp: ENSP00000418335.1:p.Glu862Asp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2379G>C
  hgvsp: ENSP00000320622.5:p.Glu793Asp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.144G>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2586G>C
  hgvsp: ENSP00000354004.3:p.Glu862Asp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2165G>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2586G>C
  hgvsp: ENSP00000353452.3:p.Glu862Asp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2586G>C
  hgvsp: ENSP00000352088.1:p.Glu862Asp
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11482
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33163
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu862Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS

3-123419731-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419731
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419731
    reference: chr 3
allele count: 1
allele frequency: 8.379279717115517e-6
allele num: 119342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.142G>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2584G>C
  hgvsp: ENSP00000418335.1:p.Glu862Gln
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2584G>C
  hgvsp: ENSP00000353452.3:p.Glu862Gln
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2377G>C
  hgvsp: ENSP00000320622.5:p.Glu793Gln
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2584G>C
  hgvsp: ENSP00000352088.1:p.Glu862Gln
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2584G>C
  hgvsp: ENSP00000354004.3:p.Glu862Gln
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2163G>C
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu862Gln
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-123419733-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419733
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419733
    reference: chr 3
allele count: 14448
allele frequency: 1.210151603986934e-1
allele num: 119390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2582T>C
  hgvsp: ENSP00000352088.1:p.Leu861Pro
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2582T>C
  hgvsp: ENSP00000354004.3:p.Leu861Pro
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2582T>C
  hgvsp: ENSP00000418335.1:p.Leu861Pro
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2375T>C
  hgvsp: ENSP00000320622.5:p.Leu792Pro
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2582T>C
  hgvsp: ENSP00000353452.3:p.Leu861Pro
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.140T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2161T>C
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 338
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 537
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22575
  bin: 2.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 497
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 2.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 13479
  bin: 3.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 447
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 539
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 9.75e1
  variant carriers: 7313
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 580
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 7.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 7.75e1
  variant carriers: 13
hgvs: p.Leu861Pro
num of homozygotes: 2403
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

3-123419741-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419741
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419741
    reference: chr 3
allele count: 1
allele frequency: 8.427865895797866e-6
allele num: 118654
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2574G>C
  hgvsp: ENSP00000353452.3:p.Gln858His
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2574G>C
  hgvsp: ENSP00000354004.3:p.Gln858His
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2153G>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2574G>C
  hgvsp: ENSP00000352088.1:p.Gln858His
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.132G>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2574G>C
  hgvsp: ENSP00000418335.1:p.Gln858His
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2367G>C
  hgvsp: ENSP00000320622.5:p.Gln789His
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln858His
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

3-123419745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419745
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419745
    reference: chr 3
allele count: 1
allele frequency: 8.441240524707511e-6
allele num: 118466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2570G>A
  hgvsp: ENSP00000354004.3:p.Gly857Glu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2570G>A
  hgvsp: ENSP00000418335.1:p.Gly857Glu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2363G>A
  hgvsp: ENSP00000320622.5:p.Gly788Glu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2149G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2570G>A
  hgvsp: ENSP00000353452.3:p.Gly857Glu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.128G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2570G>A
  hgvsp: ENSP00000352088.1:p.Gly857Glu
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly857Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

3-123419746-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419746
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419746
    reference: chr 3
allele count: 1
allele frequency: 8.449228585430151e-6
allele num: 118354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2148G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2569G>A
  hgvsp: ENSP00000353452.3:p.Gly857Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2569G>A
  hgvsp: ENSP00000354004.3:p.Gly857Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2362G>A
  hgvsp: ENSP00000320622.5:p.Gly788Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.127G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2569G>A
  hgvsp: ENSP00000418335.1:p.Gly857Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2569G>A
  hgvsp: ENSP00000352088.1:p.Gly857Arg
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8042
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly857Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

3-123419774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419774
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419774
    reference: chr 3
allele count: 1
allele frequency: 8.539126276599378e-6
allele num: 117108
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2541G>A
  hgvsp: ENST00000360304.3:c.2541G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2120G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2334G>A
  hgvsp: ENST00000346322.5:c.2334G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2541G>A
  hgvsp: ENST00000475616.1:c.2541G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2541G>A
  hgvsp: ENST00000360772.3:c.2541G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.99G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2541G>A
  hgvsp: ENST00000359169.1:c.2541G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly847Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-123419778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419778
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419778
    reference: chr 3
allele count: 1
allele frequency: 8.563696776624533e-6
allele num: 116772
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2537A>G
  hgvsp: ENSP00000353452.3:p.Tyr846Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2116A>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.95A>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2330A>G
  hgvsp: ENSP00000320622.5:p.Tyr777Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2537A>G
  hgvsp: ENSP00000418335.1:p.Tyr846Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2537A>G
  hgvsp: ENSP00000352088.1:p.Tyr846Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2537A>G
  hgvsp: ENSP00000354004.3:p.Tyr846Cys
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr846Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

3-123419782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419782
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419782
    reference: chr 3
allele count: 3191
allele frequency: 2.735486746905325e-2
allele num: 116652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2326C>T
  hgvsp: ENSP00000320622.5:p.Arg776Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2533C>T
  hgvsp: ENSP00000418335.1:p.Arg845Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2533C>T
  hgvsp: ENSP00000354004.3:p.Arg845Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2533C>T
  hgvsp: ENSP00000353452.3:p.Arg845Cys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.91C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2112C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2533C>T
  hgvsp: ENSP00000352088.1:p.Arg845Cys
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 3.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.75e1
  variant carriers: 1042
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 3.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 26000
  bin: 2.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.25e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7868
  bin: 6.75e1
  variant carriers: 2
hgvs: p.Arg845Cys
num of homozygotes: 138
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-123419786-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419786
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419786
    reference: chr 3
allele count: 1
allele frequency: 8.588556607176597e-6
allele num: 116434
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2529T>C
  hgvsp: ENST00000360304.3:c.2529T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2529T>C
  hgvsp: ENST00000360772.3:c.2529T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2108T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2529T>C
  hgvsp: ENST00000475616.1:c.2529T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.87T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2322T>C
  hgvsp: ENST00000346322.5:c.2322T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2529T>C
  hgvsp: ENST00000359169.1:c.2529T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser843Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

3-123419788-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419788
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419788
    reference: chr 3
allele count: 1
allele frequency: 8.592394012819852e-6
allele num: 116382
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2527A>G
  hgvsp: ENSP00000353452.3:p.Ser843Gly
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2106A>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2527A>G
  hgvsp: ENSP00000354004.3:p.Ser843Gly
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2527A>G
  hgvsp: ENSP00000352088.1:p.Ser843Gly
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2320A>G
  hgvsp: ENSP00000320622.5:p.Ser774Gly
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.85A>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2527A>G
  hgvsp: ENSP00000418335.1:p.Ser843Gly
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39827
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser843Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-123419799-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419799
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419799
    reference: chr 3
allele count: 1
allele frequency: 8.618906433151761e-6
allele num: 116024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2309A>G
  hgvsp: ENSP00000320622.5:p.Asp770Gly
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2516A>G
  hgvsp: ENSP00000352088.1:p.Asp839Gly
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.74A>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2516A>G
  hgvsp: ENSP00000354004.3:p.Asp839Gly
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2516A>G
  hgvsp: ENSP00000418335.1:p.Asp839Gly
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2516A>G
  hgvsp: ENSP00000353452.3:p.Asp839Gly
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2095A>G
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39828
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp839Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-123419815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419815
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419815
    reference: chr 3
allele count: 1
allele frequency: 8.654711625008655e-6
allele num: 115544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2293G>A
  hgvsp: ENSP00000320622.5:p.Gly765Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2500G>A
  hgvsp: ENSP00000353452.3:p.Gly834Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2500G>A
  hgvsp: ENSP00000418335.1:p.Gly834Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2500G>A
  hgvsp: ENSP00000352088.1:p.Gly834Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2079G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2500G>A
  hgvsp: ENSP00000354004.3:p.Gly834Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.58G>A
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly834Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

3-123419830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419830
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419830
    reference: chr 3
allele count: 26
allele frequency: 2.263585868259303e-4
allele num: 114862
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2485G>A
  hgvsp: ENSP00000353452.3:p.Glu829Lys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2485G>A
  hgvsp: ENSP00000354004.3:p.Glu829Lys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2485G>A
  hgvsp: ENSP00000352088.1:p.Glu829Lys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.43G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2485G>A
  hgvsp: ENSP00000418335.1:p.Glu829Lys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2278G>A
  hgvsp: ENSP00000320622.5:p.Glu760Lys
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2064G>A
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26943
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15634
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu829Lys
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

3-123419831-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419831
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419831
    reference: chr 3
allele count: 1
allele frequency: 8.713533860792583e-6
allele num: 114764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2484C>G
  hgvsp: ENSP00000352088.1:p.Cys828Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2484C>G
  hgvsp: ENSP00000353452.3:p.Cys828Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2484C>G
  hgvsp: ENSP00000354004.3:p.Cys828Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2277C>G
  hgvsp: ENSP00000320622.5:p.Cys759Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.42C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2063C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2484C>G
  hgvsp: ENSP00000418335.1:p.Cys828Trp
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39296
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys828Trp
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: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-123419837-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419837
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419837
    reference: chr 3
allele count: 1
allele frequency: 8.726155779332973e-6
allele num: 114598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.36C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2478C>G
  hgvsp: ENST00000360772.3:c.2478C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2478C>G
  hgvsp: ENST00000360304.3:c.2478C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2478C>G
  hgvsp: ENST00000475616.1:c.2478C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2057C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2271C>G
  hgvsp: ENST00000346322.5:c.2271C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2478C>G
  hgvsp: ENST00000359169.1:c.2478C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala826Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-123419841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419841
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419841
    reference: chr 3
allele count: 15
allele frequency: 1.311188811188811e-4
allele num: 114400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2474C>T
  hgvsp: ENSP00000353452.3:p.Pro825Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2053C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2474C>T
  hgvsp: ENSP00000354004.3:p.Pro825Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2267C>T
  hgvsp: ENSP00000320622.5:p.Pro756Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2474C>T
  hgvsp: ENSP00000352088.1:p.Pro825Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.32C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2474C>T
  hgvsp: ENSP00000418335.1:p.Pro825Leu
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26828
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15522
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 9.75e1
  variant carriers: 15
hgvs: p.Pro825Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

3-123419842-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419842
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419842
    reference: chr 3
allele count: 2
allele frequency: 1.74901617839965e-5
allele num: 114350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2473C>G
  hgvsp: ENSP00000418335.1:p.Pro825Ala
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2473C>G
  hgvsp: ENSP00000354004.3:p.Pro825Ala
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2052C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2473C>G
  hgvsp: ENSP00000353452.3:p.Pro825Ala
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2266C>G
  hgvsp: ENSP00000320622.5:p.Pro756Ala
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.31C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2473C>G
  hgvsp: ENSP00000352088.1:p.Pro825Ala
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro825Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-123419843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419843
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419843
    reference: chr 3
allele count: 1
allele frequency: 8.759175236059772e-6
allele num: 114166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.30G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2472G>A
  hgvsp: ENST00000475616.1:c.2472G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2472G>A
  hgvsp: ENST00000360304.3:c.2472G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2051G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2472G>A
  hgvsp: ENST00000360772.3:c.2472G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2472G>A
  hgvsp: ENST00000359169.1:c.2472G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2265G>A
  hgvsp: ENST00000346322.5:c.2265G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu824Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-123419851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419851
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419851
    reference: chr 3
allele count: 1
allele frequency: 8.785030308354564e-6
allele num: 113830
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2464G>A
  hgvsp: ENSP00000353452.3:p.Gly822Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2257G>A
  hgvsp: ENSP00000320622.5:p.Gly753Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2464G>A
  hgvsp: ENSP00000354004.3:p.Gly822Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.22G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2464G>A
  hgvsp: ENSP00000418335.1:p.Gly822Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2043G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2464G>A
  hgvsp: ENSP00000352088.1:p.Gly822Arg
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly822Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-123419864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419864
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419864
    reference: chr 3
allele count: 2
allele frequency: 1.775126921574893e-5
allele num: 112668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2463-12C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2463-12C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2256-12C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2463-12C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2042-12C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2463-12C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.21-12C>T
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-123419869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419869
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419869
    reference: chr 3
allele count: 2
allele frequency: 1.788109074653554e-5
allele num: 111850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2463-17C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.21-17C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2042-17C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2463-17C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2256-17C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2463-17C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2463-17C>T
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35915
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

3-123419874-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419874
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419873
    reference: chr 3
allele count: 1
allele frequency: 8.989733724087092e-6
allele num: 111238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.21-23delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2463-23delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2256-23delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2463-23delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2042-23delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2463-23delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2463-23delC
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13121
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: AG
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-123419876-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419876
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419876
    reference: chr 3
allele count: 1
allele frequency: 9.030976248532467e-6
allele num: 110730
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2463-24C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2042-24C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2463-24C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2256-24C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.21-24C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2463-24C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2463-24C>G
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-123419890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419890
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419890
    reference: chr 3
allele count: 1
allele frequency: 9.195571412807591e-6
allele num: 108748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2042-38C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.21-38C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2463-38C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2256-38C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2463-38C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2463-38C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2463-38C>T
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

3-123419891-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419891
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419891
    reference: chr 3
allele count: 1
allele frequency: 9.203865623561896e-6
allele num: 108650
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2463-39T>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2256-39T>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2463-39T>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2463-39T>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2042-39T>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2463-39T>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.21-39T>A
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4839
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8928
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

3-123419900-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123419900
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123419899
    reference: chr 3
allele count: 1
allele frequency: 9.520907913778659e-6
allele num: 105032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2463-49delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2256-49delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2042-49delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2463-49delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2463-49delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.21-49delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2463-49delC
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 14802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: TG
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

3-123420239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420239
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420239
    reference: chr 3
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+46C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+46C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+46C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+46C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+46C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+46C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+46C>T
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-123420241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420241
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420241
    reference: chr 3
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+44C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+44C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+44C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+44C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+44C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+44C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+44C>T
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS

3-123420242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420242
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420242
    reference: chr 3
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+43C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+43C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+43C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+43C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+43C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+43C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+43C>T
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 270
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genotype quality: GenotypeQuality
  all individuals: 3290
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8061
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-123420244-T-TGGGGGCATGGCCTGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420244
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420259
    reference: chr 3
allele count: 1
allele frequency: 8.296414289743973e-6
allele num: 120534
alternate allele: TGGGGGCATGGCCTGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 114
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12387
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 3648
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 247
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8043
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

3-123420244-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420244
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420243
    reference: chr 3
allele count: 14
allele frequency: 1.161498000564156e-4
allele num: 120534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+40delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+40delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+40delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+40delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+40delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+40delC
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+40delC
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12387
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: TG
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum

3-123420246-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420246
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420246
    reference: chr 3
allele count: 55
allele frequency: 4.562497926137306e-4
allele num: 120548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+39C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+39C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+39C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+39C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+39C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+39C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+39C>G
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16911
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15416
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

3-123420249-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420249
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420249
    reference: chr 3
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+36C>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+36C>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+36C>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+36C>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+36C>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+36C>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+36C>A
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS

3-123420259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420259
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420259
    reference: chr 3
allele count: 3
allele frequency: 2.484472049689441e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+26C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+26C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+26C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+26C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+26C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+26C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+26C>T
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12347
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-123420259-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420259
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420259
    reference: chr 3
allele count: 5
allele frequency: 4.140786749482401e-5
allele num: 120750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+26C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+26C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+26C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+26C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+26C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+26C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+26C>G
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

3-123420261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420261
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420261
    reference: chr 3
allele count: 38
allele frequency: 3.146476774033286e-4
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+24C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+24C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+24C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+24C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+24C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+24C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+24C>T
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15521
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12347
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-123420265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420265
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420265
    reference: chr 3
allele count: 63
allele frequency: 5.213332891992983e-4
allele num: 120844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+20G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+20G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+20G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+20G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+20G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+20G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+20G>A
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 17219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15529
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9086
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 20210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12339
  bin: 9.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

3-123420266-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420266
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420266
    reference: chr 3
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+19T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+19T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+19T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+19T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+19T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+19T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+19T>C
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15538
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

3-123420280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420280
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420280
    reference: chr 3
allele count: 6
allele frequency: 4.955319535521382e-5
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+5G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+5G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+5G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+5G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+5G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+5G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+5G>A
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20620
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2462+5G>A
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

3-123420283-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420283
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420283
    reference: chr 3
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041+2T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462+2T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462+2T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20+2T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255+2T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462+2T>C
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462+2T>C
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2462+2T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-123420285-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420285
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420285
    reference: chr 3
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.20G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2462G>A
  hgvsp: ENSP00000353452.3:p.Arg821Gln
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2462G>A
  hgvsp: ENSP00000354004.3:p.Arg821Gln
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2462G>A
  hgvsp: ENSP00000352088.1:p.Arg821Gln
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2462G>A
  hgvsp: ENSP00000418335.1:p.Arg821Gln
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2041G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2255G>A
  hgvsp: ENSP00000320622.5:p.Arg752Gln
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg821Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-123420286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420286
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420286
    reference: chr 3
allele count: 20
allele frequency: 1.650709805216243e-4
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2461C>T
  hgvsp: ENSP00000418335.1:p.Arg821Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2254C>T
  hgvsp: ENSP00000320622.5:p.Arg752Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2461C>T
  hgvsp: ENSP00000352088.1:p.Arg821Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.19C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2461C>T
  hgvsp: ENSP00000353452.3:p.Arg821Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2461C>T
  hgvsp: ENSP00000354004.3:p.Arg821Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2040C>T
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15584
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 5355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12313
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg821Trp
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: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-123420288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420288
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420288
    reference: chr 3
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2459C>T
  hgvsp: ENSP00000354004.3:p.Pro820Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2459C>T
  hgvsp: ENSP00000418335.1:p.Pro820Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2252C>T
  hgvsp: ENSP00000320622.5:p.Pro751Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.17C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2459C>T
  hgvsp: ENSP00000353452.3:p.Pro820Leu
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2038C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2459C>T
  hgvsp: ENSP00000352088.1:p.Pro820Leu
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro820Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

3-123420289-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420289
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420289
    reference: chr 3
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2458C>T
  hgvsp: ENSP00000354004.3:p.Pro820Ser
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2458C>T
  hgvsp: ENSP00000418335.1:p.Pro820Ser
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.16C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2037C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2458C>T
  hgvsp: ENSP00000353452.3:p.Pro820Ser
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2458C>T
  hgvsp: ENSP00000352088.1:p.Pro820Ser
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2251C>T
  hgvsp: ENSP00000320622.5:p.Pro751Ser
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8225
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro820Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

3-123420294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420294
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420294
    reference: chr 3
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2032C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2453C>T
  hgvsp: ENSP00000353452.3:p.Ala818Val
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2246C>T
  hgvsp: ENSP00000320622.5:p.Ala749Val
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2453C>T
  hgvsp: ENSP00000352088.1:p.Ala818Val
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065534
  ensembl transcript: ENST00000504946
  gene symbol: MYLK
  hgvsc: ENST00000504946.1:n.11C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2453C>T
  hgvsp: ENSP00000354004.3:p.Ala818Val
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2453C>T
  hgvsp: ENSP00000418335.1:p.Ala818Val
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4420
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala818Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

3-123420312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420312
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420312
    reference: chr 3
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2228A>G
  hgvsp: ENSP00000320622.5:p.Gln743Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2014A>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2435A>G
  hgvsp: ENSP00000418335.1:p.Gln812Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2435A>G
  hgvsp: ENSP00000354004.3:p.Gln812Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2435A>G
  hgvsp: ENSP00000353452.3:p.Gln812Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2435A>G
  hgvsp: ENSP00000352088.1:p.Gln812Arg
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln812Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

3-123420320-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420320
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420320
    reference: chr 3
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2220G>A
  hgvsp: ENST00000346322.5:c.2220G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2006G>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2427G>A
  hgvsp: ENST00000360304.3:c.2427G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2427G>A
  hgvsp: ENST00000475616.1:c.2427G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2427G>A
  hgvsp: ENST00000360772.3:c.2427G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2427G>A
  hgvsp: ENST00000359169.1:c.2427G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu809Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

3-123420322-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420322
    reference: chr 3
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2425C>A
  hgvsp: ENSP00000353452.3:p.Leu809Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2425C>A
  hgvsp: ENSP00000354004.3:p.Leu809Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2425C>A
  hgvsp: ENSP00000352088.1:p.Leu809Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2218C>A
  hgvsp: ENSP00000320622.5:p.Leu740Met
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*2004C>A
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2425C>A
  hgvsp: ENSP00000418335.1:p.Leu809Met
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu809Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-123420330-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420330
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420330
    reference: chr 3
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2417A>G
  hgvsp: ENSP00000353452.3:p.Gln806Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*1996A>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2417A>G
  hgvsp: ENSP00000418335.1:p.Gln806Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2417A>G
  hgvsp: ENSP00000352088.1:p.Gln806Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2417A>G
  hgvsp: ENSP00000354004.3:p.Gln806Arg
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2210A>G
  hgvsp: ENSP00000320622.5:p.Gln737Arg
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln806Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-123420332-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420332
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420332
    reference: chr 3
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2208C>G
  hgvsp: ENSP00000320622.5:p.Cys736Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2415C>G
  hgvsp: ENSP00000354004.3:p.Cys805Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2415C>G
  hgvsp: ENSP00000352088.1:p.Cys805Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2415C>G
  hgvsp: ENSP00000418335.1:p.Cys805Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*1994C>G
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2415C>G
  hgvsp: ENSP00000353452.3:p.Cys805Trp
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys805Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-123420338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420338
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420338
    reference: chr 3
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2202C>T
  hgvsp: ENST00000346322.5:c.2202C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*1988C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2409C>T
  hgvsp: ENST00000475616.1:c.2409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2409C>T
  hgvsp: ENST00000360304.3:c.2409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2409C>T
  hgvsp: ENST00000360772.3:c.2409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2409C>T
  hgvsp: ENST00000359169.1:c.2409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys803Cys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

3-123420344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420344
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420344
    reference: chr 3
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2196C>T
  hgvsp: ENST00000346322.5:c.2196C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2403C>T
  hgvsp: ENST00000475616.1:c.2403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2403C>T
  hgvsp: ENST00000360304.3:c.2403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*1982C>T
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2403C>T
  hgvsp: ENST00000360772.3:c.2403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2403C>T
  hgvsp: ENST00000359169.1:c.2403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly801Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-123420348-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420348
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420347
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2191delG
  hgvsp: ENSP00000320622.5:p.Val731LeufsTer10
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2398delG
  hgvsp: ENSP00000352088.1:p.Val800LeufsTer10
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2398delG
  hgvsp: ENSP00000354004.3:p.Val800LeufsTer10
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2398delG
  hgvsp: ENSP00000353452.3:p.Val800LeufsTer10
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2398delG
  hgvsp: ENSP00000418335.1:p.Val800LeufsTer10
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*1977delG
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val800LeufsTer10
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: AC
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

3-123420352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123420352
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 123420352
    reference: chr 3
allele count: 4
allele frequency: 3.297609233305853e-5
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000353452
  ensembl transcript: ENST00000360304
  gene symbol: MYLK
  hgvsc: ENST00000360304.3:c.2395C>T
  hgvsp: ENSP00000353452.3:p.Arg799Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000354004
  ensembl transcript: ENST00000360772
  gene symbol: MYLK
  hgvsc: ENST00000360772.3:c.2395C>T
  hgvsp: ENSP00000354004.3:p.Arg799Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000320622
  ensembl transcript: ENST00000346322
  gene symbol: MYLK
  hgvsc: ENST00000346322.5:c.2188C>T
  hgvsp: ENSP00000320622.5:p.Arg730Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000352088
  ensembl transcript: ENST00000359169
  gene symbol: MYLK
  hgvsc: ENST00000359169.1:c.2395C>T
  hgvsp: ENSP00000352088.1:p.Arg799Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000418335
  ensembl transcript: ENST00000475616
  gene symbol: MYLK
  hgvsc: ENST00000475616.1:c.2395C>T
  hgvsp: ENSP00000418335.1:p.Arg799Trp
  variant of: http://identifiers.org/hgnc/7590
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065534
  ensembl protein: ENSP00000417798
  ensembl transcript: ENST00000464489
  gene symbol: MYLK
  hgvsc: ENST00000464489.1:c.*1974C>T
  variant of: http://identifiers.org/hgnc/7590
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12288
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg799Trp
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 539
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11540
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
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: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
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: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.027e0

QD
type: SiteQuality
SIO_000300: 1.56e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.966e0

VQSLOD
type: SiteQuality
SIO_000300: -1.732e0

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

DP
type: SiteQuality
SIO_000300: 2.395276e6

GenotypeQuality
all individuals: 34673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1986
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.522e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.85e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 2.353e1

FS
type: SiteQuality
SIO_000300: 4.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

DP
type: SiteQuality
SIO_000300: 2.394389e6

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

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

GenotypeQuality
all individuals: 591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11539
bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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: 2
allele frequency: 3.010416039496658e-5
allele num: 66436
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.441e1

FS
type: SiteQuality
SIO_000300: 1.781e0

DP
type: SiteQuality
SIO_000300: 2.393768e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.107e0

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

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

GenotypeQuality
all individuals: 2093
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053677333895295e-4
allele num: 66434
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.481e0

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.297e0

DP
type: SiteQuality
SIO_000300: 2.394093e6

QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeQuality
all individuals: 2092
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1990
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34658
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.296e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.394747e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.267e0

GenotypeQuality
all individuals: 1990
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34658
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11531
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7487
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.011322572874006e-4
allele num: 66416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.267e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 2.394747e6

QD
type: SiteQuality
SIO_000300: 1.296e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11519
bin: 9.75e1
variant carriers: 132

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 131
allele frequency: 7.934585099939431e-3
allele num: 16510
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

DP
type: SiteQuality
SIO_000300: 2.393835e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.396e0

QD
type: SiteQuality
SIO_000300: 1.218e1

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11513
bin: 9.75e1
variant carriers: 10

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.517664066500015e-5
allele num: 66406
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.104e0

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

DP
type: SiteQuality
SIO_000300: 2.390986e6

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

GenotypeQuality
all individuals: 34659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11510
bin: 9.75e1
variant carriers: 4

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

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

African
type: Population
allele count: 4
allele frequency: 3.858769052672198e-4
allele num: 10366
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66376
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.522e1

FS
type: SiteQuality
SIO_000300: 8.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.366e0

QD
type: SiteQuality
SIO_000300: 1.148e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.396e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.467e0

DP
type: SiteQuality
SIO_000300: 2.390445e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
all individuals: 531
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11504
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 176
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
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: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: -9.425e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.31e-1

DP
type: SiteQuality
SIO_000300: 2.377288e6

FS
type: SiteQuality
SIO_000300: 1.0344e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.43e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515702679762338e-5
allele num: 65976
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 1.115e1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

FS
type: SiteQuality
SIO_000300: 8.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.373826e6

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516208266367468e-5
allele num: 65954
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.163e0

QD
type: SiteQuality
SIO_000300: 1.032e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.771e1

FS
type: SiteQuality
SIO_000300: 4.064e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

DP
type: SiteQuality
SIO_000300: 2.373684e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 7207
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.112170822829025e-5
allele num: 65846
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 1.389e1

DP
type: SiteQuality
SIO_000300: 2.369726e6

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 1.103e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 236
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 582
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variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65764
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.366462e6

MQRankSum
type: SiteQuality
SIO_000300: -5.42e0

QD
type: SiteQuality
SIO_000300: 4.96e0

MQ
type: SiteQuality
SIO_000300: 5.233e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 1.298e0

VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.719e0

GenotypeQuality
all individuals: 581
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65766
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.183e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 2.366508e6

FS
type: SiteQuality
SIO_000300: 1.098e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

MQ
type: SiteQuality
SIO_000300: 5.921e1

GenotypeQuality
all individuals: 83
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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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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521236460995497e-5
allele num: 65736
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.807e1

DP
type: SiteQuality
SIO_000300: 2.3661e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.628e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.34e-1

QD
type: SiteQuality
SIO_000300: 1.803e1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.423e0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 128
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GenotypeQuality
all individuals: 1924
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variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.526810797605961e-4
allele num: 65496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
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: 8628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.983e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

FS
type: SiteQuality
SIO_000300: 1.748e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.361704e6

QD
type: SiteQuality
SIO_000300: 1.218e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

GenotypeQuality
all individuals: 2044
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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
all individuals: 70
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GenotypeQuality
all individuals: 80
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variant carriers: 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: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528210770829513e-5
allele num: 65436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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East Asian
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allele count: 0
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allele num: 8632
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.11e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.359356e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

FS
type: SiteQuality
SIO_000300: 3.928e0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11
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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: 130
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GenotypeQuality
all individuals: 11482
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532567049808429e-5
allele num: 65250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

FS
type: SiteQuality
SIO_000300: 9.18e-1

QD
type: SiteQuality
SIO_000300: 1.393e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

DP
type: SiteQuality
SIO_000300: 2.357615e6

MQ
type: SiteQuality
SIO_000300: 5.878e1

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 6992
bin: 6.75e1
variant carriers: 15

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 14

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 32934
bin: 6.25e1
variant carriers: 12

GenotypeQuality
all individuals: 12703
bin: 9.75e1
variant carriers: 11868

GenotypeQuality
all individuals: 472
bin: 9.25e1
variant carriers: 20

GenotypeQuality
all individuals: 447
bin: 8.75e1
variant carriers: 18

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 18

East Asian
type: Population
allele count: 4806
allele frequency: 5.579289528674252e-1
allele num: 8614
num of homozygotes: 1334

South Asian
type: Population
allele count: 4223
allele frequency: 2.563122117018694e-1
allele num: 16476
num of homozygotes: 610

European (Finnish)
type: Population
allele count: 506
allele frequency: 7.662023016353725e-2
allele num: 6604
num of homozygotes: 27

African
type: Population
allele count: 2850
allele frequency: 2.852281825460368e-1
allele num: 9992
num of homozygotes: 377

Other
type: Population
allele count: 105
allele frequency: 1.174496644295302e-1
allele num: 894
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 1141
allele frequency: 1.747908943288704e-2
allele num: 65278
num of homozygotes: 12

Latino
type: Population
allele count: 817
allele frequency: 7.084634061741242e-2
allele num: 11532
num of homozygotes: 37

QD
type: SiteQuality
SIO_000300: 1.521e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.11e0

DP
type: SiteQuality
SIO_000300: 2.70198e6

MQ
type: SiteQuality
SIO_000300: 5.604e1

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 2.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64956
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.796e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.657e1

FS
type: SiteQuality
SIO_000300: 3.172e0

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

DP
type: SiteQuality
SIO_000300: 1.964099e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.271e-1

MQ
type: SiteQuality
SIO_000300: 5.284e1

GenotypeQuality
all individuals: 38467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4826
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
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: 9562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542115165160534e-5
allele num: 64846
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.151e0

VQSLOD
type: SiteQuality
SIO_000300: -8.931e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.192e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.962142e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.191e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

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

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543781647523774e-5
allele num: 64776
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: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
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: -3.339e0

QD
type: SiteQuality
SIO_000300: 1.197e1

FS
type: SiteQuality
SIO_000300: 7.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.12e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.961212e6

GenotypeQuality
all individuals: 1767
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.168e1

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.948857e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.089e0

GenotypeQuality
all individuals: 148
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38001
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565141175734051e-5
allele num: 63892
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.489e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.849e1

FS
type: SiteQuality
SIO_000300: 6.631e0

QD
type: SiteQuality
SIO_000300: 1.603e1

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.402e0

DP
type: SiteQuality
SIO_000300: 1.946648e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

GenotypeQuality
all individuals: 2025
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 800
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 470
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38032
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 5064
bin: 9.75e1
variant carriers: 3035

African
type: Population
allele count: 161
allele frequency: 1.79367201426025e-2
allele num: 8976
num of homozygotes: 1

East Asian
type: Population
allele count: 410
allele frequency: 4.821260583254939e-2
allele num: 8504
num of homozygotes: 14

South Asian
type: Population
allele count: 1445
allele frequency: 8.824966410162452e-2
allele num: 16374
num of homozygotes: 93

European (Finnish)
type: Population
allele count: 386
allele frequency: 5.855582524271845e-2
allele num: 6592
num of homozygotes: 17

Other
type: Population
allele count: 32
allele frequency: 3.636363636363636e-2
allele num: 880
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 332
allele frequency: 5.200501253132832e-3
allele num: 63840
num of homozygotes: 1

Latino
type: Population
allele count: 425
allele frequency: 3.700156712519589e-2
allele num: 11486
num of homozygotes: 11

FS
type: SiteQuality
SIO_000300: 2.477e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: -1.167e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.61e1

DP
type: SiteQuality
SIO_000300: 1.983343e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

GenotypeQuality
all individuals: 166
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8200
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63730
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 1.79999e6

FS
type: SiteQuality
SIO_000300: 1.226e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e-1

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

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63706
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8860
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.193e1

VQSLOD
type: SiteQuality
SIO_000300: -2.946e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

DP
type: SiteQuality
SIO_000300: 1.799466e6

FS
type: SiteQuality
SIO_000300: 9.188000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.84e-1

MQ
type: SiteQuality
SIO_000300: 5.6e1

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.121449559255632e-5
allele num: 16336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63518
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.727e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: -1.31e0

DP
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SIO_000300: 1.796039e6

QD
type: SiteQuality
SIO_000300: 1.428e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

African
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63232
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ReadPosRankSum
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SIO_000300: 1.01e0

BaseQRankSum
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SIO_000300: -1.452e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

FS
type: SiteQuality
SIO_000300: 3.129e0

MQRankSum
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SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 6.79e0

VQSLOD
type: SiteQuality
SIO_000300: -1.862e0

DP
type: SiteQuality
SIO_000300: 1.789579e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 25

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.744316194473592e-5
allele num: 11436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62814
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.59317456420329e-4
allele num: 16292
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African
type: Population
allele count: 11
allele frequency: 1.296252651425878e-3
allele num: 8486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 5.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 1.780352e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 1
allele frequency: 6.139489194499017e-5
allele num: 16288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.102e1

MQ
type: SiteQuality
SIO_000300: 5.75e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

VQSLOD
type: SiteQuality
SIO_000300: -3.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.777527e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

GenotypeQuality
all individuals: 39259
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2030
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GenotypeQuality
all individuals: 2577
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.191895113230036e-4
allele num: 8390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.005e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.513e0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 1.773667e6

VQSLOD
type: SiteQuality
SIO_000300: -1.343e0

FS
type: SiteQuality
SIO_000300: 1.861e0

MQ
type: SiteQuality
SIO_000300: 5.712e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.398158214491271e-4
allele num: 62548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 1.769602e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 1.369e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599539332672191e-5
allele num: 62518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
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East Asian
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allele count: 1
allele frequency: 1.195028680688336e-4
allele num: 8368
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South Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.60199929512031e-5
allele num: 62422
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 8352
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Other
type: Population
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.7e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.93e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
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Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.162188809465122e-5
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62254
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.623429332121173e-5
allele num: 61598
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.212415130940834e-4
allele num: 8248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.713278e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.107e0

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 1.048e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.246261216350947e-4
allele num: 16048
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

FS
type: SiteQuality
SIO_000300: 1.677e0

DP
type: SiteQuality
SIO_000300: 1.675477e6

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.244e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.645007402533311e-5
allele num: 60790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.627238e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

MQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.09e1

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.65371258475277e-5
allele num: 60470
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.341e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 1.793e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

DP
type: SiteQuality
SIO_000300: 1.585172e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1301
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.30119722747322e-5
allele num: 15870
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.119e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 6.282e0

DP
type: SiteQuality
SIO_000300: 1.380833e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

GenotypeQuality
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bin: 8.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 3832
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7764
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.067827348567283e-5
allele num: 11028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.363353e6

MQRankSum
type: SiteQuality
SIO_000300: -1.444e0

QD
type: SiteQuality
SIO_000300: 1.294e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.388e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-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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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.746114894360049e-5
allele num: 57270
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.178e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.268487e6

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.539e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.549e0

QD
type: SiteQuality
SIO_000300: 1.134e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.191e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.399e0

DP
type: SiteQuality
SIO_000300: 2.033889e6

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-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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variant carriers: 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: 1
allele frequency: 1.511990081345066e-5
allele num: 66138
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 2.351e0

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

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

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

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.358e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.078e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3288
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variant carriers: 0

GenotypeQuality
all individuals: 5311
bin: 7.75e1
variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66126
num of homozygotes: 0

European (Finnish)
type: Population
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: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 5.044e0

DP
type: SiteQuality
SIO_000300: 2.03652e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
all individuals: 206
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66126
num of homozygotes: 0

European (Finnish)
type: Population
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: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 1.621496409543665e-3
allele num: 8634
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

FS
type: SiteQuality
SIO_000300: 5.044e0

DP
type: SiteQuality
SIO_000300: 2.03652e6

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 54

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8072
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 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: 66150
num of homozygotes: 0

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

African
type: Population
allele count: 53
allele frequency: 5.186925034253278e-3
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.41e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.038834e6

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 1.594e0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.896e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.038614e6

FS
type: SiteQuality
SIO_000300: 2.519e0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3308
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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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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018139015483053e-5
allele num: 66266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.302e1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

DP
type: SiteQuality
SIO_000300: 2.04438e6

GenotypeQuality
all individuals: 240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 12347
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 8114
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3308
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GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 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: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.323015735777278e-4
allele num: 11566
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

DP
type: SiteQuality
SIO_000300: 2.04438e6

QD
type: SiteQuality
SIO_000300: 1.302e1

GenotypeQuality
all individuals: 212
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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
all individuals: 50
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GenotypeQuality
all individuals: 20138
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variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.545454545454545e-4
allele num: 6600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.129907359908265e-4
allele num: 66278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.868e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 2.046002e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-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
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5333
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

South Asian
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allele count: 63
allele frequency: 3.815869170199879e-3
allele num: 16510
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.951e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.046895e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.076e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6602
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 (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.045838e6

MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.809e1

VQSLOD
type: SiteQuality
SIO_000300: -1.019e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 50
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GenotypeQuality
all individuals: 4420
bin: 8.25e1
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
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: 5
allele frequency: 7.519475441393208e-5
allele num: 66494
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.051477e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.835e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.208e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.503307276007216e-5
allele num: 66520
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Other
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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African
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European (Non-Finnish)
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Other
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MQ
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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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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South Asian
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allele num: 16510
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.554316795384199e-4
allele num: 66554
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MQ
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FS
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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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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European (Finnish)
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African
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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FS
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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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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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African
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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VQSLOD
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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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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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Other
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European (Non-Finnish)
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allele frequency: 1.501005673801447e-5
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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QD
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FS
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MQRankSum
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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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African
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European (Non-Finnish)
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Latino
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Other
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South Asian
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European (Finnish)
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East Asian
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ClippingRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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QD
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BaseQRankSum
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MQ
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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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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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South Asian
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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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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East Asian
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European (Non-Finnish)
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African
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Latino
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South Asian
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European (Finnish)
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Other
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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South Asian
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African
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allele frequency: 0.0e0
allele num: 10396
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: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.267e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.083e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

DP
type: SiteQuality
SIO_000300: 2.055343e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.335e0

QD
type: SiteQuality
SIO_000300: 1.113e1

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

GenotypeQuality
all individuals: 5365
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12294
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 10396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.972e0

DP
type: SiteQuality
SIO_000300: 2.055191e6

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20920
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.926e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.12e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

DP
type: SiteQuality
SIO_000300: 2.055239e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12292
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
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: 6608
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 2.055007e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

FS
type: SiteQuality
SIO_000300: 6.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.903e0

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12291
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 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: 6608
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 2.054523e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.046e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 3.574e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e0

QD
type: SiteQuality
SIO_000300: 1.447e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1