17-27421018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421018
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421018
    reference: chr 17
allele count: 13
allele frequency: 1.668634800020537e-4
allele num: 77908
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4801C>T
  hgvsp: ENSP00000437073.1:p.Arg1601Trp
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1099C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4801C>T
  hgvsp: ENSP00000434228.1:p.Arg1601Trp
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3829C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4711-573C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4801C>T
  hgvsp: ENSP00000346291.4:p.Arg1601Trp
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20493
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24219
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25471
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1601Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-27421031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421031
    reference: chr 17
allele count: 1
allele frequency: 1.145291705797467e-5
allele num: 87314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1086G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4788G>A
  hgvsp: ENST00000354329.4:c.4788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4788G>A
  hgvsp: ENST00000527372.1:c.4788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3816G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4788G>A
  hgvsp: ENST00000531253.1:c.4788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4711-586G>A
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu1596Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-27421041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421041
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421041
    reference: chr 17
allele count: 2
allele frequency: 2.182643617950061e-5
allele num: 91632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4778G>A
  hgvsp: ENSP00000346291.4:p.Arg1593Gln
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4778G>A
  hgvsp: ENSP00000437073.1:p.Arg1593Gln
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4778G>A
  hgvsp: ENSP00000434228.1:p.Arg1593Gln
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1076G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3806G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4711-596G>A
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg1593Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

17-27421042-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421042
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421042
    reference: chr 17
allele count: 3
allele frequency: 3.251680034684587e-5
allele num: 92260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3805C>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4711-597C>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4777C>A
  hgvsp: ENST00000354329.4:c.4777C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4777C>A
  hgvsp: ENST00000527372.1:c.4777C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4777C>A
  hgvsp: ENST00000531253.1:c.4777C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1075C>A
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13805
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15453
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Arg1593Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-27421044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421044
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421044
    reference: chr 17
allele count: 2
allele frequency: 2.153455218898723e-5
allele num: 92874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4775G>A
  hgvsp: ENSP00000346291.4:p.Ser1592Asn
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1073G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3803G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4775G>A
  hgvsp: ENSP00000434228.1:p.Ser1592Asn
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4711-599G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4775G>A
  hgvsp: ENSP00000437073.1:p.Ser1592Asn
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1592Asn
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

17-27421049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421049
    reference: chr 17
allele count: 2
allele frequency: 2.1338796065126e-5
allele num: 93726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4770G>A
  hgvsp: ENSP00000434228.1:p.Met1590Ile
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4711-604G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3798G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4770G>A
  hgvsp: ENSP00000437073.1:p.Met1590Ile
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1068G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4770G>A
  hgvsp: ENSP00000346291.4:p.Met1590Ile
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30476
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met1590Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-27421077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421077
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421077
    reference: chr 17
allele count: 2
allele frequency: 2.296949650863653e-5
allele num: 87072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3770G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4742G>A
  hgvsp: ENSP00000346291.4:p.Arg1581Gln
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4742G>A
  hgvsp: ENSP00000437073.1:p.Arg1581Gln
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4742G>A
  hgvsp: ENSP00000434228.1:p.Arg1581Gln
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1040G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+591G>A
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9446
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15964
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1581Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-27421078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421078
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421078
    reference: chr 17
allele count: 1
allele frequency: 1.150112711045682e-5
allele num: 86948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4741C>T
  hgvsp: ENSP00000434228.1:p.Arg1581Trp
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3769C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4741C>T
  hgvsp: ENSP00000346291.4:p.Arg1581Trp
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4741C>T
  hgvsp: ENSP00000437073.1:p.Arg1581Trp
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+590C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1039C>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20516
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1581Trp
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-27421091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421091
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421091
    reference: chr 17
allele count: 6
allele frequency: 7.522379077756324e-5
allele num: 79762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3756G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4728G>A
  hgvsp: ENST00000527372.1:c.4728G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+577G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4728G>A
  hgvsp: ENST00000354329.4:c.4728G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1026G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4728G>A
  hgvsp: ENST00000531253.1:c.4728G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14323
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13698
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu1576Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

17-27421098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421098
    reference: chr 17
allele count: 3
allele frequency: 4.041383769802781e-5
allele num: 74232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4721G>A
  hgvsp: ENSP00000346291.4:p.Arg1574His
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4721G>A
  hgvsp: ENSP00000437073.1:p.Arg1574His
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3749G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+570G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1019G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4721G>A
  hgvsp: ENSP00000434228.1:p.Arg1574His
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15969
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1574His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

17-27421100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421100
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421100
    reference: chr 17
allele count: 1
allele frequency: 1.360433161918755e-5
allele num: 73506
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4719G>A
  hgvsp: ENST00000527372.1:c.4719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4719G>A
  hgvsp: ENST00000531253.1:c.4719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3747G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4719G>A
  hgvsp: ENST00000354329.4:c.4719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+568G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1017G>A
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1573Leu
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: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-27421106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421106
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421106
    reference: chr 17
allele count: 1
allele frequency: 1.45930011966261e-5
allele num: 68526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1011C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4713C>T
  hgvsp: ENST00000531253.1:c.4713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3741C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4713C>T
  hgvsp: ENST00000527372.1:c.4713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4713C>T
  hgvsp: ENST00000354329.4:c.4713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+562C>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 0
hgvs: c.4713C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-27421108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421108
    reference: chr 17
allele count: 536
allele frequency: 8.022991258531913e-3
allele num: 66808
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4711G>A
  hgvsp: ENSP00000437073.1:p.Ala1571Thr
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3739G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4711G>A
  hgvsp: ENSP00000434228.1:p.Ala1571Thr
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4711G>A
  hgvsp: ENSP00000346291.4:p.Ala1571Thr
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1009G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+560G>A
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 1.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22390
  bin: 7.5e0
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 17655
  bin: 1.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 32819
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8318
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 3.25e1
  variant carriers: 5
hgvs: p.Ala1571Thr
num of homozygotes: 11
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

17-27421114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421114
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421114
    reference: chr 17
allele count: 1
allele frequency: 1.659585767392459e-5
allele num: 60256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4711-6C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4711-6C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3739-6C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4711-6C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1009-6C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+554C>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 1.25e1
  variant carriers: 0
hgvs: c.4711-6C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-27421115-GTGGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421115
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421111
    reference: chr 17
allele count: 1
allele frequency: 1.682935038707506e-5
allele num: 59420
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4711-11_4711-8delACCA
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3739-11_*3739-8delACCA
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+549_4710+552delACCA
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1009-11_1009-8delACCA
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4711-11_4711-8delACCA
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4711-11_4711-8delACCA
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23838
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16714
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 1.75e1
  variant carriers: 0
hgvs: c.4711-11_4711-8delACCA
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GTGGT
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

17-27421116-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421116
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421116
    reference: chr 17
allele count: 1
allele frequency: 1.682821755519655e-5
allele num: 59424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3739-8A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4711-8A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4711-8A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4711-8A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+552A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1009-8A>G
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
hgvs: c.4711-8A>G
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

17-27421119-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421119
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421119
    reference: chr 17
allele count: 1
allele frequency: 1.763108713283261e-5
allele num: 56718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4711-11A>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1009-11A>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3739-11A>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4711-11A>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4711-11A>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+549A>C
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16013
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31685
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7471
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

17-27421120-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421120
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421120
    reference: chr 17
allele count: 2
allele frequency: 3.614806246385194e-5
allele num: 55328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3739-12A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4711-12A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+548A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1009-12A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4711-12A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4711-12A>G
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24422
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8034
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

17-27421121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421121
    reference: chr 17
allele count: 1
allele frequency: 1.816134539246667e-5
allele num: 55062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+547C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1009-13C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3739-13C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4711-13C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4711-13C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4711-13C>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8069
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6067
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

17-27421122-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421122
    reference: chr 17
allele count: 13
allele frequency: 2.385146044327022e-4
allele num: 54504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1009-14C>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4711-14C>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3739-14C>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+546C>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4711-14C>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4711-14C>G
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15448
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24604
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31090
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

17-27421124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421124
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421124
    reference: chr 17
allele count: 2
allele frequency: 3.829363559776365e-5
allele num: 52228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1009-16C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4711-16C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4711-16C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+544C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4711-16C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3739-16C>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14823
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

17-27421136-TTCCCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421136
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421130
    reference: chr 17
allele count: 1
allele frequency: 2.206726101156324e-5
allele num: 45316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3739-34_*3739-29delGAGGGA
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4711-34_4711-29delGAGGGA
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1009-34_1009-29delGAGGGA
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+526_4710+531delGAGGGA
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4711-34_4711-29delGAGGGA
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4711-34_4711-29delGAGGGA
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12989
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: TTCCCTC
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum

17-27421142-C-CGGGAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421142
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421147
    reference: chr 17
allele count: 1
allele frequency: 2.45724395517987e-5
allele num: 40696
alternate allele: CGGGAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1009-35_1009-34insTTCCC
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4711-35_4711-34insTTCCC
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4711-35_4711-34insTTCCC
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+525_4710+526insTTCCC
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4711-35_4711-34insTTCCC
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3739-35_*3739-34insTTCCC
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5379
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14798
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-27421622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421622
    reference: chr 17
allele count: 78
allele frequency: 6.487241757876177e-4
allele num: 120236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+46G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+46G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+46G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-273G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+46G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+46G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+46G>A
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18260
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 4
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

17-27421623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421623
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421623
    reference: chr 17
allele count: 3
allele frequency: 2.490908185124296e-5
allele num: 120438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+45C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-274C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+45C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+45C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+45C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+45C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+45C>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14096
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-27421624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421624
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421624
    reference: chr 17
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+44C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-275C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+44C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+44C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+44C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+44C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+44C>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19109
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

17-27421628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421628
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421628
    reference: chr 17
allele count: 418
allele frequency: 3.4688220942391e-3
allele num: 120502
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+40G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+40G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+40G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-279G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+40G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+40G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+40G>A
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 8.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 6.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 6.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 8
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-27421629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421629
    reference: chr 17
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+39C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-280C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+39C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+39C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+39C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+39C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+39C>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5032
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-27421642-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421642
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421642
    reference: chr 17
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+26A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+26A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+26A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+26A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+26A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-293A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+26A>G
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

17-27421642-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421642
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421642
    reference: chr 17
allele count: 22
allele frequency: 1.823033195777192e-4
allele num: 120678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+26A>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+26A>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+26A>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+26A>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+26A>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-293A>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+26A>C
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24635
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-27421645-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421645
    reference: chr 17
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+23G>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-296G>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+23G>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+23G>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+23G>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+23G>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+23G>C
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-27421648-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421648
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421648
    reference: chr 17
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+20A>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+20A>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+20A>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-299A>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+20A>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+20A>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+20A>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24622
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

17-27421651-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421651
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421651
    reference: chr 17
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+17C>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+17C>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+17C>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-302C>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+17C>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+17C>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+17C>G
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

17-27421664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421664
    reference: chr 17
allele count: 4
allele frequency: 3.312355084465055e-5
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+4C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+4C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+4C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+4C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-315C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+4C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+4C>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24621
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: c.4710+4C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

17-27421664-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421664
    reference: chr 17
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3738+4C>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4710+4C>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-315C>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4710+4C>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4710+4C>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4710+4C>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1008+4C>A
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20608
  bin: 6.25e1
  variant carriers: 0
hgvs: c.4710+4C>A
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-27421673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421673
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421673
    reference: chr 17
allele count: 2
allele frequency: 1.656012983141788e-5
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4705G>A
  hgvsp: ENSP00000435932.1:p.Glu1569Lys
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3733G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4705G>A
  hgvsp: ENSP00000346291.4:p.Glu1569Lys
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.1003G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-324G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4705G>A
  hgvsp: ENSP00000434228.1:p.Glu1569Lys
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4705G>A
  hgvsp: ENSP00000437073.1:p.Glu1569Lys
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24617
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5181
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu1569Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-27421678-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421678
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421678
    reference: chr 17
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4700T>C
  hgvsp: ENSP00000434228.1:p.Met1567Thr
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4700T>C
  hgvsp: ENSP00000435932.1:p.Met1567Thr
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4700T>C
  hgvsp: ENSP00000437073.1:p.Met1567Thr
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3728T>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-329T>C
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4700T>C
  hgvsp: ENSP00000346291.4:p.Met1567Thr
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.998T>C
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1567Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-27421679-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421679
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421679
    reference: chr 17
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-330A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3727A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4699A>G
  hgvsp: ENSP00000435932.1:p.Met1567Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4699A>G
  hgvsp: ENSP00000434228.1:p.Met1567Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4699A>G
  hgvsp: ENSP00000437073.1:p.Met1567Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4699A>G
  hgvsp: ENSP00000346291.4:p.Met1567Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.997A>G
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20644
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1567Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

17-27421688-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421688
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421688
    reference: chr 17
allele count: 2
allele frequency: 1.655903295247558e-5
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4690A>T
  hgvsp: ENSP00000435932.1:p.Thr1564Ser
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4690A>T
  hgvsp: ENSP00000346291.4:p.Thr1564Ser
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-339A>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4690A>T
  hgvsp: ENSP00000437073.1:p.Thr1564Ser
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3718A>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.988A>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4690A>T
  hgvsp: ENSP00000434228.1:p.Thr1564Ser
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr1564Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-27421713-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421713
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421713
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4665A>G
  hgvsp: ENST00000527372.1:c.4665A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4665A>G
  hgvsp: ENST00000354329.4:c.4665A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4665A>G
  hgvsp: ENST00000531253.1:c.4665A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4665A>G
  hgvsp: ENST00000533112.1:c.4665A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3693A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.963A>G
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-364A>G
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu1555Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

14-74196523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196523
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196523
    reference: chr 14
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1915C>T
  hgvsp: ENSP00000402380.1:p.Arg639Cys
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1915C>T
  hgvsp: ENSP00000377634.2:p.Arg639Cys
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1915C>T
  hgvsp: ENSP00000407767.1:p.Arg639Cys
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*153C>T
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1915C>T
  hgvsp: ENSP00000286523.5:p.Arg639Cys
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg639Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-27421720-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421720
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421720
    reference: chr 17
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4658A>T
  hgvsp: ENSP00000435932.1:p.Asp1553Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-371A>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4658A>T
  hgvsp: ENSP00000437073.1:p.Asp1553Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.956A>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4658A>T
  hgvsp: ENSP00000346291.4:p.Asp1553Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4658A>T
  hgvsp: ENSP00000434228.1:p.Asp1553Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3686A>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp1553Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-27421721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421721
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421721
    reference: chr 17
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4657G>A
  hgvsp: ENSP00000434228.1:p.Asp1553Asn
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4657G>A
  hgvsp: ENSP00000346291.4:p.Asp1553Asn
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4657G>A
  hgvsp: ENSP00000435932.1:p.Asp1553Asn
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4657G>A
  hgvsp: ENSP00000437073.1:p.Asp1553Asn
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3685G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-372G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.955G>A
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp1553Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

17-27421731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421731
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421731
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.945C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3675C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4647C>T
  hgvsp: ENST00000531253.1:c.4647C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4647C>T
  hgvsp: ENST00000533112.1:c.4647C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4647C>T
  hgvsp: ENST00000527372.1:c.4647C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-382C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4647C>T
  hgvsp: ENST00000354329.4:c.4647C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1549Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

17-27421732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421732
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421732
    reference: chr 17
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-383C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3674C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4646C>T
  hgvsp: ENSP00000437073.1:p.Ala1549Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4646C>T
  hgvsp: ENSP00000346291.4:p.Ala1549Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4646C>T
  hgvsp: ENSP00000435932.1:p.Ala1549Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4646C>T
  hgvsp: ENSP00000434228.1:p.Ala1549Val
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.944C>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1549Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-27421739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421739
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421739
    reference: chr 17
allele count: 5
allele frequency: 4.140169581346052e-5
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3667C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4639C>T
  hgvsp: ENST00000531253.1:c.4639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4639C>T
  hgvsp: ENST00000527372.1:c.4639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-390C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4639C>T
  hgvsp: ENST00000533112.1:c.4639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.937C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4639C>T
  hgvsp: ENST00000354329.4:c.4639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1547Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

17-27421740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421740
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421740
    reference: chr 17
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4638C>T
  hgvsp: ENST00000527372.1:c.4638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.936C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3666C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-391C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4638C>T
  hgvsp: ENST00000533112.1:c.4638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4638C>T
  hgvsp: ENST00000354329.4:c.4638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4638C>T
  hgvsp: ENST00000531253.1:c.4638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24614
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp1546Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-27421743-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421743
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421743
    reference: chr 17
allele count: 4
allele frequency: 3.312190517198549e-5
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4635G>T
  hgvsp: ENST00000531253.1:c.4635G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.933G>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4635G>T
  hgvsp: ENST00000527372.1:c.4635G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4635G>T
  hgvsp: ENST00000354329.4:c.4635G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3663G>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4635G>T
  hgvsp: ENST00000533112.1:c.4635G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-394G>T
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1545Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

17-27421744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421744
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421744
    reference: chr 17
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4634G>A
  hgvsp: ENSP00000435932.1:p.Arg1545Gln
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4634G>A
  hgvsp: ENSP00000434228.1:p.Arg1545Gln
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-395G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3662G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4634G>A
  hgvsp: ENSP00000437073.1:p.Arg1545Gln
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.932G>A
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4634G>A
  hgvsp: ENSP00000346291.4:p.Arg1545Gln
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24614
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1545Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-27421745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27421745
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 27421745
    reference: chr 17
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000346291
  ensembl transcript: ENST00000354329
  gene symbol: MYO18A
  hgvsc: ENST00000354329.4:c.4633C>T
  hgvsp: ENSP00000346291.4:p.Arg1545Trp
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000437073
  ensembl transcript: ENST00000527372
  gene symbol: MYO18A
  hgvsc: ENST00000527372.1:c.4633C>T
  hgvsp: ENSP00000437073.1:p.Arg1545Trp
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000530557
  gene symbol: MYO18A
  hgvsc: ENST00000530557.2:n.931C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196535
  ensembl transcript: ENST00000533652
  gene symbol: MYO18A
  hgvsc: ENST00000533652.1:n.454-396C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434228
  ensembl transcript: ENST00000531253
  gene symbol: MYO18A
  hgvsc: ENST00000531253.1:c.4633C>T
  hgvsp: ENSP00000434228.1:p.Arg1545Trp
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000434817
  ensembl transcript: ENST00000530254
  gene symbol: MYO18A
  hgvsc: ENST00000530254.2:c.*3661C>T
  variant of: http://identifiers.org/hgnc/31104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196535
  ensembl protein: ENSP00000435932
  ensembl transcript: ENST00000533112
  gene symbol: MYO18A
  hgvsc: ENST00000533112.1:c.4633C>T
  hgvsp: ENSP00000435932.1:p.Arg1545Trp
  variant of: http://identifiers.org/hgnc/31104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24614
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1545Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

14-74196526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196526
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196526
    reference: chr 14
allele count: 6
allele frequency: 4.975701988622228e-5
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*150G>A
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1912G>A
  hgvsp: ENSP00000402380.1:p.Val638Met
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1912G>A
  hgvsp: ENSP00000407767.1:p.Val638Met
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1912G>A
  hgvsp: ENSP00000286523.5:p.Val638Met
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1912G>A
  hgvsp: ENSP00000377634.2:p.Val638Met
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val638Met
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

14-74196527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196527
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196527
    reference: chr 14
allele count: 3
allele frequency: 2.487479685582568e-5
allele num: 120604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1911C>T
  hgvsp: ENST00000394071.2:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*149C>T
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1911C>T
  hgvsp: ENST00000286523.5:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1911C>T
  hgvsp: ENST00000435371.1:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1911C>T
  hgvsp: ENST00000423556.1:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13952
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro637Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum

14-74196548-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196548
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196548
    reference: chr 14
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1890C>T
  hgvsp: ENST00000394071.2:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1890C>T
  hgvsp: ENST00000286523.5:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1890C>T
  hgvsp: ENST00000423556.1:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1890C>T
  hgvsp: ENST00000435371.1:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*128C>T
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7201
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr630Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

14-74196553-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196553
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196553
    reference: chr 14
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1885C>G
  hgvsp: ENSP00000407767.1:p.Pro629Ala
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1885C>G
  hgvsp: ENSP00000402380.1:p.Pro629Ala
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*123C>G
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1885C>G
  hgvsp: ENSP00000377634.2:p.Pro629Ala
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1885C>G
  hgvsp: ENSP00000286523.5:p.Pro629Ala
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro629Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-74196554-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196554
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196554
    reference: chr 14
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1884C>A
  hgvsp: ENST00000435371.1:c.1884C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1884C>A
  hgvsp: ENST00000286523.5:c.1884C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*122C>A
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1884C>A
  hgvsp: ENST00000423556.1:c.1884C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1884C>A
  hgvsp: ENST00000394071.2:c.1884C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr628Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

14-74196557-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196557
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196557
    reference: chr 14
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1881C>G
  hgvsp: ENSP00000407767.1:p.Ile627Met
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1881C>G
  hgvsp: ENSP00000402380.1:p.Ile627Met
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1881C>G
  hgvsp: ENSP00000377634.2:p.Ile627Met
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1881C>G
  hgvsp: ENSP00000286523.5:p.Ile627Met
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*119C>G
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7206
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile627Met
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

14-74196569-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196569
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196569
    reference: chr 14
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1869C>G
  hgvsp: ENST00000394071.2:c.1869C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1869C>G
  hgvsp: ENST00000435371.1:c.1869C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1869C>G
  hgvsp: ENST00000286523.5:c.1869C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*107C>G
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1869C>G
  hgvsp: ENST00000423556.1:c.1869C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val623Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-74196571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196571
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196571
    reference: chr 14
allele count: 4
allele frequency: 3.318125259228536e-5
allele num: 120550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1867G>A
  hgvsp: ENSP00000377634.2:p.Val623Ile
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1867G>A
  hgvsp: ENSP00000286523.5:p.Val623Ile
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1867G>A
  hgvsp: ENSP00000402380.1:p.Val623Ile
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1867G>A
  hgvsp: ENSP00000407767.1:p.Val623Ile
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val623Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

14-74196572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196572
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196572
    reference: chr 14
allele count: 7
allele frequency: 5.804119266359325e-5
allele num: 120604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1866C>T
  hgvsp: ENST00000394071.2:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1866C>T
  hgvsp: ENST00000286523.5:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1866C>T
  hgvsp: ENST00000423556.1:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1866C>T
  hgvsp: ENST00000435371.1:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*104C>T
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro622Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-74196573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196573
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196573
    reference: chr 14
allele count: 2
allele frequency: 1.658072325114821e-5
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1865C>T
  hgvsp: ENSP00000286523.5:p.Pro622Leu
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1865C>T
  hgvsp: ENSP00000377634.2:p.Pro622Leu
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*103C>T
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1865C>T
  hgvsp: ENSP00000407767.1:p.Pro622Leu
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1865C>T
  hgvsp: ENSP00000402380.1:p.Pro622Leu
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro622Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-74196581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196581
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196581
    reference: chr 14
allele count: 8669
allele frequency: 7.191326276669874e-2
allele num: 120548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1857C>T
  hgvsp: ENST00000435371.1:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1857C>T
  hgvsp: ENST00000286523.5:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1857C>T
  hgvsp: ENST00000423556.1:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*95C>T
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1857C>T
  hgvsp: ENST00000394071.2:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 645
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 500
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 409
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 3.25e1
  variant carriers: 293
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 533
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 641
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 6.25e1
  variant carriers: 617
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.75e1
  variant carriers: 538
genotype depth: GenotypeDepth
  all individuals: 12327
  bin: 2.75e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 584
genotype depth: GenotypeDepth
  all individuals: 32652
  bin: 2.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 402
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.75e1
  variant carriers: 555
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 387
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.75e1
  variant carriers: 1300
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37934
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5893
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Ile619Ile
num of homozygotes: 426
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

14-74196593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196593
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196593
    reference: chr 14
allele count: 1
allele frequency: 8.323761008173934e-6
allele num: 120138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1845G>A
  hgvsp: ENST00000423556.1:c.1845G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*83G>A
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1845G>A
  hgvsp: ENST00000286523.5:c.1845G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1845G>A
  hgvsp: ENST00000394071.2:c.1845G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1845G>A
  hgvsp: ENST00000435371.1:c.1845G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala615Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

14-74196594-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196594
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196594
    reference: chr 14
allele count: 1
allele frequency: 8.327226700419692e-6
allele num: 120088
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1844C>A
  hgvsp: ENSP00000286523.5:p.Ala615Glu
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1844C>A
  hgvsp: ENSP00000407767.1:p.Ala615Glu
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*82C>A
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1844C>A
  hgvsp: ENSP00000402380.1:p.Ala615Glu
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1844C>A
  hgvsp: ENSP00000377634.2:p.Ala615Glu
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32767
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6583
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala615Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

14-74196599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196599
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196599
    reference: chr 14
allele count: 1
allele frequency: 8.332083520805212e-6
allele num: 120018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*77C>T
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1839C>T
  hgvsp: ENST00000286523.5:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1839C>T
  hgvsp: ENST00000423556.1:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1839C>T
  hgvsp: ENST00000394071.2:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1839C>T
  hgvsp: ENST00000435371.1:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr613Thr
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

14-74196602-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196602
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196602
    reference: chr 14
allele count: 5
allele frequency: 4.170907088873688e-5
allele num: 119878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1836C>G
  hgvsp: ENST00000435371.1:c.1836C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1836C>G
  hgvsp: ENST00000423556.1:c.1836C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1836C>G
  hgvsp: ENST00000394071.2:c.1836C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1836C>G
  hgvsp: ENST00000286523.5:c.1836C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*74C>G
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro612Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

14-74196618-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196618
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196618
    reference: chr 14
allele count: 1
allele frequency: 8.390951198227832e-6
allele num: 119176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1820A>C
  hgvsp: ENSP00000402380.1:p.Glu607Ala
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1820A>C
  hgvsp: ENSP00000407767.1:p.Glu607Ala
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1820A>C
  hgvsp: ENSP00000377634.2:p.Glu607Ala
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1820A>C
  hgvsp: ENSP00000286523.5:p.Glu607Ala
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*58A>C
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu607Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

14-74196619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196619
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196619
    reference: chr 14
allele count: 1
allele frequency: 8.402372830087217e-6
allele num: 119014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1819G>A
  hgvsp: ENSP00000377634.2:p.Glu607Lys
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*57G>A
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1819G>A
  hgvsp: ENSP00000286523.5:p.Glu607Lys
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1819G>A
  hgvsp: ENSP00000402380.1:p.Glu607Lys
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1819G>A
  hgvsp: ENSP00000407767.1:p.Glu607Lys
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu607Lys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

14-74196620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196620
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196620
    reference: chr 14
allele count: 2
allele frequency: 1.680870018321483e-5
allele num: 118986
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1818C>T
  hgvsp: ENST00000286523.5:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1818C>T
  hgvsp: ENST00000394071.2:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*56C>T
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1818C>T
  hgvsp: ENST00000435371.1:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1818C>T
  hgvsp: ENST00000423556.1:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro606Pro
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum

14-74196631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196631
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196631
    reference: chr 14
allele count: 1
allele frequency: 8.443521286117163e-6
allele num: 118434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1807C>T
  hgvsp: ENSP00000402380.1:p.Arg603Trp
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1807C>T
  hgvsp: ENSP00000407767.1:p.Arg603Trp
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1807C>T
  hgvsp: ENSP00000286523.5:p.Arg603Trp
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1807C>T
  hgvsp: ENSP00000377634.2:p.Arg603Trp
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg603Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-74196631-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196631
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196631
    reference: chr 14
allele count: 1
allele frequency: 8.443521286117163e-6
allele num: 118434
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1807C>A
  hgvsp: ENST00000286523.5:c.1807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1807C>A
  hgvsp: ENST00000423556.1:c.1807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1807C>A
  hgvsp: ENST00000435371.1:c.1807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1807C>A
  hgvsp: ENST00000394071.2:c.1807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*45C>A
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg603Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

14-74196645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196645
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196645
    reference: chr 14
allele count: 16
allele frequency: 1.356829090415699e-4
allele num: 117922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*31G>A
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1793G>A
  hgvsp: ENSP00000286523.5:p.Arg598Gln
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1793G>A
  hgvsp: ENSP00000377634.2:p.Arg598Gln
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1793G>A
  hgvsp: ENSP00000407767.1:p.Arg598Gln
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1793G>A
  hgvsp: ENSP00000402380.1:p.Arg598Gln
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg598Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

14-74196646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196646
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196646
    reference: chr 14
allele count: 7
allele frequency: 5.942476824340385e-5
allele num: 117796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1792C>T
  hgvsp: ENSP00000407767.1:p.Arg598Trp
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1792C>T
  hgvsp: ENSP00000286523.5:p.Arg598Trp
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1792C>T
  hgvsp: ENSP00000402380.1:p.Arg598Trp
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1792C>T
  hgvsp: ENSP00000377634.2:p.Arg598Trp
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg598Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

14-74196649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74196649
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 74196649
    reference: chr 14
allele count: 7
allele frequency: 5.953494701389715e-5
allele num: 117578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000400871
  ensembl transcript: ENST00000451078
  gene symbol: ELMSAN1
  hgvsc: ENST00000451078.1:c.*27G>A
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000286523
  ensembl transcript: ENST00000286523
  gene symbol: ELMSAN1
  hgvsc: ENST00000286523.5:c.1789G>A
  hgvsp: ENSP00000286523.5:p.Val597Met
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000402380
  ensembl transcript: ENST00000435371
  gene symbol: ELMSAN1
  hgvsc: ENST00000435371.1:c.1789G>A
  hgvsp: ENSP00000402380.1:p.Val597Met
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000377634
  ensembl transcript: ENST00000394071
  gene symbol: ELMSAN1
  hgvsc: ENST00000394071.2:c.1789G>A
  hgvsp: ENSP00000377634.2:p.Val597Met
  variant of: http://identifiers.org/hgnc/19853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156030
  ensembl protein: ENSP00000407767
  ensembl transcript: ENST00000423556
  gene symbol: ELMSAN1
  hgvsc: ENST00000423556.1:c.1789G>A
  hgvsp: ENSP00000407767.1:p.Val597Met
  variant of: http://identifiers.org/hgnc/19853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Val597Met
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 240
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 9.75e1
variant carriers: 12

South Asian
type: Population
allele count: 10
allele frequency: 9.184423218221896e-4
allele num: 10888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43396
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.947244326554671e-4
allele num: 6786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4206
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.717622810030917e-4
allele num: 5822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.168042e6

QD
type: SiteQuality
SIO_000300: 1.359e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2762
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29692
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6794
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.555783709787816e-5
allele num: 11688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4644
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.303e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 1.244345e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 222
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32197
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2762
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.944995526510289e-5
allele num: 51414
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.40805406927626e-4
allele num: 7102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 2.497e1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

DP
type: SiteQuality
SIO_000300: 1.289654e6

VQSLOD
type: SiteQuality
SIO_000300: -6.73e-2

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

GenotypeQuality
all individuals: 2762
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.795309662712978e-5
allele num: 51766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12138
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 4.391e0

VQSLOD
type: SiteQuality
SIO_000300: -7.073e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 1.294038e6

QD
type: SiteQuality
SIO_000300: 7.52e0

GenotypeQuality
all individuals: 90
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.837593061631744e-5
allele num: 52116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12196
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.295941e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.848e0

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

GenotypeQuality
all individuals: 280
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.799680826810548e-5
allele num: 52636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7224
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

FS
type: SiteQuality
SIO_000300: 2.415e0

VQSLOD
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

QD
type: SiteQuality
SIO_000300: 7.44e0

DP
type: SiteQuality
SIO_000300: 1.304322e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 415
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2279
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24209
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11868
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.468860164512338e-4
allele num: 6808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.053894183371673e-5
allele num: 48688
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 1.0712e1

DP
type: SiteQuality
SIO_000300: 1.200817e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.702e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
SIO_000300: 1.187e1

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

GenotypeQuality
all individuals: 304
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11870
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.541782300339192e-4
allele num: 6486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6810
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.876e1

FS
type: SiteQuality
SIO_000300: 2.424e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0

VQSLOD
type: SiteQuality
SIO_000300: -1.066e0

QD
type: SiteQuality
SIO_000300: 9.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.199475e6

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2765
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1447
bin: 7.5e0
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GenotypeQuality
all individuals: 494
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.253571911479695e-5
allele num: 44374
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 7.301401869158878e-4
allele num: 6848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
type: SiteQuality
SIO_000300: 1.082e1

VQSLOD
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 1.090035e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

FS
type: SiteQuality
SIO_000300: 2.894e0

GenotypeQuality
all individuals: 896
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2784
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12434
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.317430118542368e-5
allele num: 40998
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.805e1

DP
type: SiteQuality
SIO_000300: 1.019941e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 8.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.016e-1

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.107468123861566e-5
allele num: 10980
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

VQSLOD
type: SiteQuality
SIO_000300: -5.438e-1

FS
type: SiteQuality
SIO_000300: 1.012e0

DP
type: SiteQuality
SIO_000300: 1.010012e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.147e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.662265055108887e-5
allele num: 37562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.819e-1

DP
type: SiteQuality
SIO_000300: 9.57009e5

FS
type: SiteQuality
SIO_000300: 6.767e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

GenotypeQuality
all individuals: 3051
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1003
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 20

GenotypeQuality
all individuals: 306
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 4352
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3243
bin: 9.75e1
variant carriers: 512

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 17

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 1

Latino
type: Population
allele count: 8
allele frequency: 1.527883880825057e-3
allele num: 5236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 5.274261603375527e-4
allele num: 3792
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.571428571428571e-3
allele num: 560
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.35564545788893e-4
allele num: 5438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 132
allele frequency: 3.609910846141224e-3
allele num: 36566
num of homozygotes: 0

South Asian
type: Population
allele count: 388
allele frequency: 3.691019786910198e-2
allele num: 10512
num of homozygotes: 11

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

FS
type: SiteQuality
SIO_000300: 1.603e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.332e1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

DP
type: SiteQuality
SIO_000300: 9.46283e5

GenotypeQuality
all individuals: 2701
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6943
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variant carriers: 0

GenotypeQuality
all individuals: 1974
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variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 223
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variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.060537430372773e-5
allele num: 32674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0792e1

VQSLOD
type: SiteQuality
SIO_000300: -1.862e0

QD
type: SiteQuality
SIO_000300: 2.118e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.92388e5

GenotypeQuality
all individuals: 2691
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.106940905983968e-5
allele num: 32186
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 8.86199e5

QD
type: SiteQuality
SIO_000300: 1.015e1

FS
type: SiteQuality
SIO_000300: 2.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQ
type: SiteQuality
SIO_000300: 5.535e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

GenotypeQuality
all individuals: 32430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6535
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.105204322444417e-5
allele num: 32204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3404
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -1.349e0

DP
type: SiteQuality
SIO_000300: 8.8472e5

QD
type: SiteQuality
SIO_000300: 6.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
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variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2750
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.264346804204478e-5
allele num: 30634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4192
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

QD
type: SiteQuality
SIO_000300: 7.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: -1.309e0

DP
type: SiteQuality
SIO_000300: 8.67423e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.714563889075404e-5
allele num: 29786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 8.5844e5

FS
type: SiteQuality
SIO_000300: 3.485e0

QD
type: SiteQuality
SIO_000300: 7.38e0

GenotypeQuality
all individuals: 544
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
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variant carriers: 0

GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 264
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.163565556036348e-4
allele num: 4622
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3196
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 8.57526e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.036e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
all individuals: 264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2177
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variant carriers: 0

GenotypeQuality
all individuals: 8348
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GenotypeQuality
all individuals: 117
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variant carriers: 2

GenotypeQuality
all individuals: 82
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GenotypeQuality
all individuals: 122
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variant carriers: 1

GenotypeQuality
all individuals: 878
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.197802197802198e-4
allele num: 4550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 4.096681687832855e-4
allele num: 29292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.611e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

FS
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 8.52475e5

GenotypeQuality
all individuals: 527
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
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GenotypeQuality
all individuals: 156
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GenotypeQuality
all individuals: 9487
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GenotypeQuality
all individuals: 2751
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 131
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variant carriers: 0

GenotypeQuality
all individuals: 5384
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.139797229758674e-5
allele num: 28012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3660
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.424e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.071e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.35961e5

QD
type: SiteQuality
SIO_000300: 1.652e1

GenotypeQuality
all individuals: 244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 600
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.174319585907497e-5
allele num: 23956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 9.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 7.81575e5

MQ
type: SiteQuality
SIO_000300: 4.598e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.52e0

GenotypeQuality
all individuals: 2748
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20835
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.73305566073457e-5
allele num: 21128
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 7.48405e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
all individuals: 497
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24690
bin: 9.75e1
variant carriers: 70

GenotypeQuality
all individuals: 4747
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2077
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 7.75e1
variant carriers: 1

South Asian
type: Population
allele count: 70
allele frequency: 4.317789291882556e-3
allele num: 16212
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510193036261952e-5
allele num: 66516
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.478664192949907e-4
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 2.446405e6

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.32e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

FS
type: SiteQuality
SIO_000300: 3.104e0

QD
type: SiteQuality
SIO_000300: 1.229e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4917
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24642
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 318
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.037489812550937e-4
allele num: 9816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 2.449133e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

FS
type: SiteQuality
SIO_000300: 5.16e0

QD
type: SiteQuality
SIO_000300: 1.294e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 2407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.019160211985324e-4
allele num: 9812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.356e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.188e0

QD
type: SiteQuality
SIO_000300: 1.81e1

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

MQ
type: SiteQuality
SIO_000300: 5.743e1

DP
type: SiteQuality
SIO_000300: 2.45036e6

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24725
bin: 9.75e1
variant carriers: 412

GenotypeQuality
all individuals: 169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 383
allele frequency: 3.901792991035045e-2
allele num: 9816
num of homozygotes: 8

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

Latino
type: Population
allele count: 24
allele frequency: 2.074688796680498e-3
allele num: 11568
num of homozygotes: 0

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

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

Other
type: Population
allele count: 4
allele frequency: 4.474272930648769e-3
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.509085994052803e-5
allele num: 66586
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.460191e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

QD
type: SiteQuality
SIO_000300: 1.434e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.465e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.19e-2

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24624
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1215
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.018952516812716e-4
allele num: 9814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

FS
type: SiteQuality
SIO_000300: 9.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

DP
type: SiteQuality
SIO_000300: 2.456095e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

QD
type: SiteQuality
SIO_000300: 1.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

GenotypeQuality
all individuals: 1225
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1888
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24635
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

FS
type: SiteQuality
SIO_000300: 6.899999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.465107e6

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.452e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1888
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 2.999850007499625e-4
allele num: 66670
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.899999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

QD
type: SiteQuality
SIO_000300: 1.232e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.452e0

DP
type: SiteQuality
SIO_000300: 2.465107e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

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

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

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

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

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24620
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5151
bin: 6.75e1
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: 6614
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

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

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

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

African
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allele num: 9818
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

Other
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Latino
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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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FS
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DP
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

DP
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-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
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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allele num: 16512
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European (Finnish)
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African
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East Asian
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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South Asian
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European (Finnish)
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African
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Other
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East Asian
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European (Non-Finnish)
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allele num: 66730
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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InbreedingCoeff
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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FS
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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East Asian
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Other
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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QD
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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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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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QD
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510710940568632e-5
allele num: 66194
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -9.641e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

QD
type: SiteQuality
SIO_000300: 9.17e0

MQRankSum
type: SiteQuality
SIO_000300: -1.119e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

FS
type: SiteQuality
SIO_000300: 6.983e0

DP
type: SiteQuality
SIO_000300: 1.512162e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.881e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1223
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 7.206e0

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.76e-1

DP
type: SiteQuality
SIO_000300: 2.46701e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.227e0

QD
type: SiteQuality
SIO_000300: 1.183e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

FS
type: SiteQuality
SIO_000300: 1.944e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.466951e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -1.019e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 2.466821e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

FS
type: SiteQuality
SIO_000300: 7.594e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.238e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

QD
type: SiteQuality
SIO_000300: 1.356e1

GenotypeQuality
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bin: 6.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.911e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

DP
type: SiteQuality
SIO_000300: 2.466814e6

FS
type: SiteQuality
SIO_000300: 2.415e0

MQ
type: SiteQuality
SIO_000300: 5.993e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.199e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1898
bin: 7.25e1
variant carriers: 0

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

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
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: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.478e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.466966e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.865e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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East Asian
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MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
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FS
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.466752e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.248e0

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.317e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.099999999999999e-2

GenotypeQuality
all individuals: 691
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.067279211751194e-5
allele num: 66172
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.478e0

DP
type: SiteQuality
SIO_000300: 1.513046e6

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7156
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021604471974619e-5
allele num: 66190
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

FS
type: SiteQuality
SIO_000300: 1.839e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 1.513648e6

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

GenotypeQuality
all individuals: 1850
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

DP
type: SiteQuality
SIO_000300: 1.51524e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 2.611e1

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: -3.002e0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66216
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.382e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

DP
type: SiteQuality
SIO_000300: 1.515589e6

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 8.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

GenotypeQuality
all individuals: 2426
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 1.515711e6

QD
type: SiteQuality
SIO_000300: 1.11e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.831e-1

MQ
type: SiteQuality
SIO_000300: 5.87e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 1863
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 818
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66234
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

QD
type: SiteQuality
SIO_000300: 1.031e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

FS
type: SiteQuality
SIO_000300: 7.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.515996e6

GenotypeQuality
all individuals: 820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41843
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66222
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.514868e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.594e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: -3.586e-1

FS
type: SiteQuality
SIO_000300: 4.575e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

GenotypeQuality
all individuals: 2425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.104260774020266e-5
allele num: 16382
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.346e1

FS
type: SiteQuality
SIO_000300: 4.876e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

DP
type: SiteQuality
SIO_000300: 1.515319e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.353e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41850
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.041931001147967e-5
allele num: 66204
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: 16384
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.524390243902439e-4
allele num: 6560
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

DP
type: SiteQuality
SIO_000300: 1.515835e6

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

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

GenotypeQuality
all individuals: 2703
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.929012345679012e-4
allele num: 10368
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66216
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.373e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.515e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

DP
type: SiteQuality
SIO_000300: 1.515653e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 509
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 9276
bin: 9.75e1
variant carriers: 8185

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 575
bin: 9.25e1
variant carriers: 10

East Asian
type: Population
allele count: 657
allele frequency: 7.607688744789254e-2
allele num: 8636
num of homozygotes: 26

European (Non-Finnish)
type: Population
allele count: 3777
allele frequency: 5.705955222527721e-2
allele num: 66194
num of homozygotes: 117

African
type: Population
allele count: 2015
allele frequency: 1.944605288554333e-1
allele num: 10362
num of homozygotes: 187

South Asian
type: Population
allele count: 1078
allele frequency: 6.598922624877571e-2
allele num: 16336
num of homozygotes: 43

Latino
type: Population
allele count: 891
allele frequency: 7.714285714285714e-2
allele num: 11550
num of homozygotes: 46

European (Finnish)
type: Population
allele count: 181
allele frequency: 2.754946727549467e-2
allele num: 6570
num of homozygotes: 4

Other
type: Population
allele count: 70
allele frequency: 7.777777777777778e-2
allele num: 900
num of homozygotes: 3

FS
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.96e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.848251e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40882
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16098
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.554e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.58704e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

QD
type: SiteQuality
SIO_000300: 8.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3708
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variant carriers: 1

GenotypeQuality
all individuals: 40732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66010
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

DP
type: SiteQuality
SIO_000300: 1.585271e6

FS
type: SiteQuality
SIO_000300: 5.076e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 8.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514967882680887e-5
allele num: 66008
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.419e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 6.208e0

DP
type: SiteQuality
SIO_000300: 1.581836e6

VQSLOD
type: SiteQuality
SIO_000300: -4.725e-1

QD
type: SiteQuality
SIO_000300: 1.838e1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

GenotypeQuality
all individuals: 6558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 800
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variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.14228255404726e-4
allele num: 15912
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.3e-1

QD
type: SiteQuality
SIO_000300: 1.082e1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.372e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.412e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.578349e6

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 6346
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 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: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65714
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15492
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.44e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

FS
type: SiteQuality
SIO_000300: 1.078e0

DP
type: SiteQuality
SIO_000300: 1.554532e6

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

GenotypeQuality
all individuals: 628
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 798
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variant carriers: 0

GenotypeQuality
all individuals: 1570
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GenotypeQuality
all individuals: 2183
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523136442562525e-5
allele num: 65654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

FS
type: SiteQuality
SIO_000300: 6.186e0

VQSLOD
type: SiteQuality
SIO_000300: -1.487e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

DP
type: SiteQuality
SIO_000300: 1.552866e6

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
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variant carriers: 2

GenotypeQuality
all individuals: 6283
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
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variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.50110518788194e-5
allele num: 15382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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: 6562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.885e1

VQSLOD
type: SiteQuality
SIO_000300: -1.175e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

DP
type: SiteQuality
SIO_000300: 1.549545e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.434e1

FS
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.96e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 632
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.524390243902439e-4
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15026
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.540774e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.022e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 15026
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: 882
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65480
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 4.923e0

DP
type: SiteQuality
SIO_000300: 1.540774e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1563
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 943
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.884249368809478e-4
allele num: 10298
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European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.531393568147014e-4
allele num: 65300
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14734
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.531111e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

FS
type: SiteQuality
SIO_000300: 5.449e0

QD
type: SiteQuality
SIO_000300: 1.162e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

GenotypeQuality
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GenotypeQuality
all individuals: 232
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1985
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.467406380027739e-4
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.81384573453257e-5
allele num: 14676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.064946210194011e-5
allele num: 65254
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

QD
type: SiteQuality
SIO_000300: 2.198e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.72e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.529668e6

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

FS
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.227e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.31e-1