1-19566893-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566893
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566893
    reference: chr 1
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.684T>C
  hgvsp: ENST00000375199.3:c.684T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.618T>C
  hgvsp: ENST00000375208.3:c.618T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.684T>C
  hgvsp: ENST00000477853.1:c.684T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.202A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.306T>C
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly228Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-19566895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566895
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566895
    reference: chr 1
allele count: 5
allele frequency: 4.121196135966503e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.682G>A
  hgvsp: ENSP00000364345.3:p.Gly228Ser
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.682G>A
  hgvsp: ENSP00000420608.1:p.Gly228Ser
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.304G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.616G>A
  hgvsp: ENSP00000364354.3:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.204C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly228Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-19566900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566900
    reference: chr 1
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.209G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.299C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.677C>T
  hgvsp: ENSP00000364345.3:p.Ala226Val
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.677C>T
  hgvsp: ENSP00000420608.1:p.Ala226Val
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.611C>T
  hgvsp: ENSP00000364354.3:p.Ala204Val
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala226Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-19566901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566901
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566901
    reference: chr 1
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.210C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.298G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.676G>A
  hgvsp: ENSP00000364345.3:p.Ala226Thr
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.610G>A
  hgvsp: ENSP00000364354.3:p.Ala204Thr
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.676G>A
  hgvsp: ENSP00000420608.1:p.Ala226Thr
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15587
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala226Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-19566908-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566908
    reference: chr 1
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.291G>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.669G>T
  hgvsp: ENST00000375199.3:c.669G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.217C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.603G>T
  hgvsp: ENST00000375208.3:c.603G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.669G>T
  hgvsp: ENST00000477853.1:c.669G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu223Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-19566917-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566917
    reference: chr 1
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.226C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.660G>C
  hgvsp: ENST00000375199.3:c.660G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.282G>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.660G>C
  hgvsp: ENST00000477853.1:c.660G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.594G>C
  hgvsp: ENST00000375208.3:c.594G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu220Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum

1-19566923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566923
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566923
    reference: chr 1
allele count: 12
allele frequency: 9.896743971233465e-5
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.232C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.276G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.654G>A
  hgvsp: ENST00000477853.1:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.588G>A
  hgvsp: ENST00000375208.3:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.654G>A
  hgvsp: ENST00000375199.3:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15585
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro218Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

1-19566924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566924
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566924
    reference: chr 1
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.275C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.233G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.587C>T
  hgvsp: ENSP00000364354.3:p.Pro196Leu
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.653C>T
  hgvsp: ENSP00000420608.1:p.Pro218Leu
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.653C>T
  hgvsp: ENSP00000364345.3:p.Pro218Leu
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4917
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro218Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-19566928-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566928
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566928
    reference: chr 1
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.649A>T
  hgvsp: ENSP00000420608.1:p.Thr217Ser
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.649A>T
  hgvsp: ENSP00000364345.3:p.Thr217Ser
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.583A>T
  hgvsp: ENSP00000364354.3:p.Thr195Ser
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.271A>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.237T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr217Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-19566933-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566933
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566932
    reference: chr 1
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.643delG
  hgvsp: ENSP00000420608.1:p.Val215PhefsTer42
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.577delG
  hgvsp: ENSP00000364354.3:p.Val193PhefsTer42
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.265delG
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.643delG
  hgvsp: ENSP00000364345.3:p.Val215PhefsTer42
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.245delC
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val215PhefsTer42
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: AC
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-19566947-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566947
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566947
    reference: chr 1
allele count: 2
allele frequency: 1.652455548945733e-5
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.571-7T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.256A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.252T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.637-7T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.637-7T>C
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15568
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7362
  bin: 6.75e1
  variant carriers: 0
hgvs: c.637-7T>C
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: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

1-19566957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566957
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566957
    reference: chr 1
allele count: 3244
allele frequency: 2.683298041291689e-2
allele num: 120896
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.637-17C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.242C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.266G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.571-17C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.637-17C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 5.25e1
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.75e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 12893
  bin: 3.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 4.75e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.25e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 3.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.75e1
  variant carriers: 504
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 5.75e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 4.25e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 16830
  bin: 9.75e1
  variant carriers: 3160
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 76
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-19566968-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566968
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566968
    reference: chr 1
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.637-28C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.637-28C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.571-28C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.277G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.231C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

1-19566972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566972
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566972
    reference: chr 1
allele count: 6
allele frequency: 4.977683386152085e-5
allele num: 120538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.571-32C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.281G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.637-32C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.637-32C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.227C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14429
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-19566975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566975
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566975
    reference: chr 1
allele count: 5
allele frequency: 4.150273087969188e-5
allele num: 120474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.224T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.637-35T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.571-35T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.637-35T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.284A>G
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14421
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-19566978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566978
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566978
    reference: chr 1
allele count: 1
allele frequency: 8.304544246611745e-6
allele num: 120416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.637-38C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.287G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.637-38C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.221C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.571-38C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-19566986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566986
    reference: chr 1
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.637-46G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.571-46G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.213G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.637-46G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.295C>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

1-19566992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19566992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19566992
    reference: chr 1
allele count: 1
allele frequency: 8.379139294811638e-6
allele num: 119344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.637-52G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.637-52G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127463
  ensembl transcript: ENST00000467423
  gene symbol: EMC1
  hgvsc: ENST00000467423.1:n.207G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.571-52G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000230424
  ensembl transcript: ENST00000437898
  gene symbol: RP1-43E13.2
  hgvsc: ENST00000437898.1:n.301C>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6382
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

1-19567479-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567479
    reference: chr 1
allele count: 1
allele frequency: 8.38940250675347e-6
allele num: 119198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.636+31A>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.570+31A>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.636+31A>C
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
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genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1716
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  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: T
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-19567487-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567487
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567487
    reference: chr 1
allele count: 3
allele frequency: 2.50547027677095e-5
allele num: 119738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.636+23T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.636+23T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.570+23T>C
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 75
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45268
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-19567495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567495
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567495
    reference: chr 1
allele count: 3
allele frequency: 2.491694352159469e-5
allele num: 120400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.636+15C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.636+15C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.570+15C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6205
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

1-19567502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567502
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567502
    reference: chr 1
allele count: 1
allele frequency: 8.275131574592036e-6
allele num: 120844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.570+8A>G
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.636+8A>G
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.636+8A>G
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2951
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6688
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45269
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
hgvs: c.636+8A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-19567503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567503
    reference: chr 1
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.636+7G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.570+7G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.636+7G>A
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6706
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
hgvs: c.636+7G>A
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-19567521-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567521
    reference: chr 1
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.559A>G
  hgvsp: ENSP00000364354.3:p.Ile187Val
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.625A>G
  hgvsp: ENSP00000364345.3:p.Ile209Val
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.625A>G
  hgvsp: ENSP00000420608.1:p.Ile209Val
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile209Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-19567529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567529
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567529
    reference: chr 1
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.551A>G
  hgvsp: ENSP00000364354.3:p.Asp184Gly
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.617A>G
  hgvsp: ENSP00000420608.1:p.Asp206Gly
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.617A>G
  hgvsp: ENSP00000364345.3:p.Asp206Gly
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45268
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp206Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

1-19567536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567536
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567536
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.610G>A
  hgvsp: ENSP00000364345.3:p.Val204Met
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.610G>A
  hgvsp: ENSP00000420608.1:p.Val204Met
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.544G>A
  hgvsp: ENSP00000364354.3:p.Val182Met
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 2693
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genotype depth: GenotypeDepth
  all individuals: 3332
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1341
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val204Met
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-19567543-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567543
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567543
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.603G>C
  hgvsp: ENSP00000364345.3:p.Lys201Asn
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.537G>C
  hgvsp: ENSP00000364354.3:p.Lys179Asn
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.603G>C
  hgvsp: ENSP00000420608.1:p.Lys201Asn
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 2693
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genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 2566
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4432
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 7316
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys201Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-19567544-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567544
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567544
    reference: chr 1
allele count: 6
allele frequency: 4.942583653228331e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.602A>G
  hgvsp: ENSP00000420608.1:p.Lys201Arg
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.602A>G
  hgvsp: ENSP00000364345.3:p.Lys201Arg
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.536A>G
  hgvsp: ENSP00000364354.3:p.Lys179Arg
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 4433
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2565
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genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2692
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1518
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1429
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 938
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genotype quality: GenotypeQuality
  all individuals: 7318
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys201Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-19567548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567548
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567548
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.532G>A
  hgvsp: ENSP00000364354.3:p.Val178Ile
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.598G>A
  hgvsp: ENSP00000420608.1:p.Val200Ile
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.598G>A
  hgvsp: ENSP00000364345.3:p.Val200Ile
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val200Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-19567549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567549
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567549
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.597T>C
  hgvsp: ENST00000477853.1:c.597T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.531T>C
  hgvsp: ENST00000375208.3:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.597T>C
  hgvsp: ENST00000375199.3:c.597T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1428
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45268
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile199Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-19567562-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567562
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567562
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.518G>C
  hgvsp: ENSP00000364354.3:p.Ser173Thr
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.584G>C
  hgvsp: ENSP00000364345.3:p.Ser195Thr
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.584G>C
  hgvsp: ENSP00000420608.1:p.Ser195Thr
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7325
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser195Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-19567569-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567569
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567569
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.511C>G
  hgvsp: ENSP00000364354.3:p.Pro171Ala
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.577C>G
  hgvsp: ENSP00000364345.3:p.Pro193Ala
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.577C>G
  hgvsp: ENSP00000420608.1:p.Pro193Ala
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 45269
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 7321
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1334
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro193Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

1-19567578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567578
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567578
    reference: chr 1
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.568G>A
  hgvsp: ENSP00000364345.3:p.Gly190Arg
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.568G>A
  hgvsp: ENSP00000420608.1:p.Gly190Arg
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.502G>A
  hgvsp: ENSP00000364354.3:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45268
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly190Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-19567579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567579
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567579
    reference: chr 1
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.501C>T
  hgvsp: ENST00000375208.3:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.567C>T
  hgvsp: ENST00000375199.3:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.567C>T
  hgvsp: ENST00000477853.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7316
  bin: 6.25e1
  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: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45267
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu189Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-19567582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567582
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567582
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.564C>T
  hgvsp: ENST00000375199.3:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.498C>T
  hgvsp: ENST00000375208.3:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.564C>T
  hgvsp: ENST00000477853.1:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala188Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-19567584-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567584
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567584
    reference: chr 1
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.496G>C
  hgvsp: ENSP00000364354.3:p.Ala166Pro
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.562G>C
  hgvsp: ENSP00000364345.3:p.Ala188Pro
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.562G>C
  hgvsp: ENSP00000420608.1:p.Ala188Pro
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45266
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala188Pro
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: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-19567588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567588
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567588
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.558G>A
  hgvsp: ENST00000477853.1:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.558G>A
  hgvsp: ENST00000375199.3:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.492G>A
  hgvsp: ENST00000375208.3:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 2692
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 45265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 936
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val186Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

1-19567589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567589
    reference: chr 1
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.557T>C
  hgvsp: ENSP00000420608.1:p.Val186Ala
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.491T>C
  hgvsp: ENSP00000364354.3:p.Val164Ala
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.557T>C
  hgvsp: ENSP00000364345.3:p.Val186Ala
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 3021
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 829
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45265
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val186Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-19567591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567591
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567591
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.489G>A
  hgvsp: ENST00000375208.3:c.489G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.555G>A
  hgvsp: ENST00000477853.1:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.555G>A
  hgvsp: ENST00000375199.3:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 21
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genotype depth: GenotypeDepth
  all individuals: 3628
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genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 830
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val185Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

1-19567602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567602
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567602
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.478G>A
  hgvsp: ENSP00000364354.3:p.Gly160Ser
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.544G>A
  hgvsp: ENSP00000364345.3:p.Gly182Ser
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.544G>A
  hgvsp: ENSP00000420608.1:p.Gly182Ser
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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genotype depth: GenotypeDepth
  all individuals: 3617
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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genotype depth: GenotypeDepth
  all individuals: 15
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 935
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genotype quality: GenotypeQuality
  all individuals: 45264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly182Ser
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-19567603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567603
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567603
    reference: chr 1
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.543C>T
  hgvsp: ENST00000477853.1:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.543C>T
  hgvsp: ENST00000375199.3:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.477C>T
  hgvsp: ENST00000375208.3:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 27
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45263
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr181Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-19567607-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567607
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567607
    reference: chr 1
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.539C>T
  hgvsp: ENSP00000420608.1:p.Ser180Phe
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.473C>T
  hgvsp: ENSP00000364354.3:p.Ser158Phe
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.539C>T
  hgvsp: ENSP00000364345.3:p.Ser180Phe
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
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genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 1329
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genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 45265
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser180Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-19567610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567610
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567610
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.470A>G
  hgvsp: ENSP00000364354.3:p.Tyr157Cys
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.536A>G
  hgvsp: ENSP00000364345.3:p.Tyr179Cys
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.536A>G
  hgvsp: ENSP00000420608.1:p.Tyr179Cys
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7296
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genotype quality: GenotypeQuality
  all individuals: 1722
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genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr179Cys
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-19567611-ACAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567611
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567608
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.532_534delGTG
  hgvsp: ENSP00000420608.1:p.Val178del
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.532_534delGTG
  hgvsp: ENSP00000364345.3:p.Val178del
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.466_468delGTG
  hgvsp: ENSP00000364354.3:p.Val156del
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 4458
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 18
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genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 5985
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genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7291
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 1329
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val178del
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: ACAC
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-19567615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567615
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567615
    reference: chr 1
allele count: 4
allele frequency: 3.296033224014898e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.465G>A
  hgvsp: ENSP00000364354.3:p.Met155Ile
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.531G>A
  hgvsp: ENSP00000420608.1:p.Met177Ile
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.531G>A
  hgvsp: ENSP00000364345.3:p.Met177Ile
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7282
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met177Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-19567616-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567616
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567616
    reference: chr 1
allele count: 9
allele frequency: 7.416196974191635e-5
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.530T>C
  hgvsp: ENSP00000364345.3:p.Met177Thr
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.464T>C
  hgvsp: ENSP00000364354.3:p.Met155Thr
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.530T>C
  hgvsp: ENSP00000420608.1:p.Met177Thr
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45266
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1324
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met177Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-19567641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567641
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567641
    reference: chr 1
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.444-5C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.510-5C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.510-5C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45260
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
hgvs: c.510-5C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

1-19567641-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567641
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567641
    reference: chr 1
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.444-5C>G
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.510-5C>G
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.510-5C>G
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 931
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7030
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: c.510-5C>G
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-19567647-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567647
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567647
    reference: chr 1
allele count: 2
allele frequency: 1.650709805216243e-5
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.510-11C>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.510-11C>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.444-11C>A
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6935
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS

1-19567653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567653
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567653
    reference: chr 1
allele count: 2
allele frequency: 1.651309488424321e-5
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.444-17C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.510-17C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.510-17C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6637
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 45258
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-19567658-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567658
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567658
    reference: chr 1
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.510-22G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.510-22G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.444-22G>A
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 240
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genotype quality: GenotypeQuality
  all individuals: 45253
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

1-19567659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567659
    reference: chr 1
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.444-23C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.510-23C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.510-23C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-19567661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567661
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567661
    reference: chr 1
allele count: 2
allele frequency: 1.651991475723985e-5
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.510-25T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.444-25T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.510-25T>C
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5988
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-19567664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567664
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567664
    reference: chr 1
allele count: 11
allele frequency: 9.088505519201534e-5
allele num: 121032
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.510-28C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.444-28C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.510-28C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45252
  bin: 9.75e1
  variant carriers: 11
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-19567681-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567681
    reference: chr 1
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.510-45C>G
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.510-45C>G
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.444-45C>G
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1102
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 345
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 50
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-19567684-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19567684
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19567684
    reference: chr 1
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.510-48T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.510-48T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.444-48T>C
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-19568793-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568793
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568793
    reference: chr 1
allele count: 3
allele frequency: 2.477536997885835e-5
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+46T>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+46T>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+46T>A
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7027
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-19568803-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568803
    reference: chr 1
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+36T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+36T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+36T>C
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32480
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-19568804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568804
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568804
    reference: chr 1
allele count: 70
allele frequency: 5.777865821447438e-4
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+35G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+35G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+35G>A
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 8
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 3179
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

1-19568805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568805
    reference: chr 1
allele count: 57
allele frequency: 4.702582295190166e-4
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+34C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+34C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+34C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8006
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-19568805-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568805
    reference: chr 1
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+34C>G
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+34C>G
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+34C>G
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3507
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genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-19568811-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568811
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568811
    reference: chr 1
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+28C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+28C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+28C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-19568819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568819
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568819
    reference: chr 1
allele count: 5
allele frequency: 4.122147473948028e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+20G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+20G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+20G>A
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32538
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-19568820-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568820
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568820
    reference: chr 1
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+19A>G
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+19A>G
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+19A>G
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8474
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-19568824-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568824
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568824
    reference: chr 1
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+15T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+15T>C
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+15T>C
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8526
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

1-19568826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568826
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568826
    reference: chr 1
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+13G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+13G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+13G>A
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-19568828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568828
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568828
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+11C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+11C>T
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+11C>T
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32545
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-19568832-GCCTTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568827
    reference: chr 1
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+2_443+6delTAAGG
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+2_509+6delTAAGG
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+2_509+6delTAAGG
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32546
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.25e1
  variant carriers: 0
hgvs: c.509+2_509+6delTAAGG
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: GCCTTA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-19568833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568833
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568833
    reference: chr 1
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.509+6G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.443+6G>A
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.509+6G>A
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32544
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 8.25e1
  variant carriers: 0
hgvs: c.509+6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-19568849-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568849
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568849
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.499C>A
  hgvsp: ENSP00000364345.3:p.Leu167Ile
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.433C>A
  hgvsp: ENSP00000364354.3:p.Leu145Ile
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.499C>A
  hgvsp: ENSP00000420608.1:p.Leu167Ile
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu167Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-19568850-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568850
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568850
    reference: chr 1
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.498T>C
  hgvsp: ENST00000375199.3:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.498T>C
  hgvsp: ENST00000477853.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.432T>C
  hgvsp: ENST00000375208.3:c.432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32550
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His166His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

1-19568850-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568850
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568849
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.497delA
  hgvsp: ENSP00000420608.1:p.His166LeufsTer32
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.431delA
  hgvsp: ENSP00000364354.3:p.His144LeufsTer32
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.497delA
  hgvsp: ENSP00000364345.3:p.His166LeufsTer32
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32550
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His166LeufsTer32
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: AT
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

1-19568851-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568851
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.431A>G
  hgvsp: ENSP00000364354.3:p.His144Arg
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.497A>G
  hgvsp: ENSP00000364345.3:p.His166Arg
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.497A>G
  hgvsp: ENSP00000420608.1:p.His166Arg
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32550
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His166Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

1-19568852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568852
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568852
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.496C>T
  hgvsp: ENSP00000364345.3:p.His166Tyr
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.430C>T
  hgvsp: ENSP00000364354.3:p.His144Tyr
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.496C>T
  hgvsp: ENSP00000420608.1:p.His166Tyr
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His166Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-19568858-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568858
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568858
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.490G>A
  hgvsp: ENSP00000420608.1:p.Val164Met
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.424G>A
  hgvsp: ENSP00000364354.3:p.Val142Met
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.490G>A
  hgvsp: ENSP00000364345.3:p.Val164Met
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32551
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val164Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-19568859-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19568859
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19568859
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000420608
  ensembl transcript: ENST00000477853
  gene symbol: EMC1
  hgvsc: ENST00000477853.1:c.489G>T
  hgvsp: ENSP00000420608.1:p.Trp163Cys
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364345
  ensembl transcript: ENST00000375199
  gene symbol: EMC1
  hgvsc: ENST00000375199.3:c.489G>T
  hgvsp: ENSP00000364345.3:p.Trp163Cys
  variant of: http://identifiers.org/hgnc/28957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127463
  ensembl protein: ENSP00000364354
  ensembl transcript: ENST00000375208
  gene symbol: EMC1
  hgvsc: ENST00000375208.3:c.423G>T
  hgvsp: ENSP00000364354.3:p.Trp141Cys
  variant of: http://identifiers.org/hgnc/28957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp163Cys
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 3602
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4925
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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: 11578
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.497e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 2.252474e6

GenotypeQuality
all individuals: 15592
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3176
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 3.849855630413859e-4
allele num: 10390
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.109e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 2.252336e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 3602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15587
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2216
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.402e0

FS
type: SiteQuality
SIO_000300: 1.582e0

DP
type: SiteQuality
SIO_000300: 2.251167e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.049e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.852000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 8.52e0

GenotypeQuality
all individuals: 2217
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 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: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.573e0

DP
type: SiteQuality
SIO_000300: 2.25116e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.791e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

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

GenotypeQuality
all individuals: 2216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4499
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15583
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.193e0

MQ
type: SiteQuality
SIO_000300: 5.857e1

FS
type: SiteQuality
SIO_000300: 1.866e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.93e-1

DP
type: SiteQuality
SIO_000300: 2.250075e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15580
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4920
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18814
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

FS
type: SiteQuality
SIO_000300: 1.599e0

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.249115e6

QD
type: SiteQuality
SIO_000300: 1.279e1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
all individuals: 18898
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 8.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.003482019571351e-5
allele num: 66628
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.85e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.185e1

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

DP
type: SiteQuality
SIO_000300: 2.249596e6

FS
type: SiteQuality
SIO_000300: 1.283e0

GenotypeQuality
all individuals: 3602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7425
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15575
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

FS
type: SiteQuality
SIO_000300: 4.403e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.248938e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

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

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.87e0

DP
type: SiteQuality
SIO_000300: 2.247528e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.529e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
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: 16508
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.349e0

DP
type: SiteQuality
SIO_000300: 2.245633e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.734e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.57e-1

DP
type: SiteQuality
SIO_000300: 2.242043e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.11e0

QD
type: SiteQuality
SIO_000300: 1.586e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 695
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 96
allele frequency: 1.451466586029634e-2
allele num: 6614
num of homozygotes: 1

South Asian
type: Population
allele count: 929
allele frequency: 5.635768017471487e-2
allele num: 16484
num of homozygotes: 36

African
type: Population
allele count: 56
allele frequency: 5.439005439005439e-3
allele num: 10296
num of homozygotes: 0

Latino
type: Population
allele count: 92
allele frequency: 7.955724662746454e-3
allele num: 11564
num of homozygotes: 0

Other
type: Population
allele count: 16
allele frequency: 1.769911504424779e-2
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 361
allele frequency: 4.183082271147161e-2
allele num: 8630
num of homozygotes: 8

European (Non-Finnish)
type: Population
allele count: 1694
allele frequency: 2.5510511414975e-2
allele num: 66404
num of homozygotes: 31

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.486e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

DP
type: SiteQuality
SIO_000300: 2.320066e6

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.38e0

QD
type: SiteQuality
SIO_000300: 1.444e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
all individuals: 2179
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GenotypeQuality
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GenotypeQuality
all individuals: 4938
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variant carriers: 0

GenotypeQuality
all individuals: 3581
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.345e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 1.883e1

DP
type: SiteQuality
SIO_000300: 2.193782e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.699e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4916
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GenotypeQuality
all individuals: 16961
bin: 6.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.047960325380265e-5
allele num: 66138
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.31e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

DP
type: SiteQuality
SIO_000300: 2.186245e6

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

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: 16460
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 5
allele frequency: 4.326756663205261e-4
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.809e1

FS
type: SiteQuality
SIO_000300: 1.4074e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.17558e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66064
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.775171065493646e-5
allele num: 10230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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MQ
type: SiteQuality
SIO_000300: 5.871e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518879674352198e-5
allele num: 65838
num of homozygotes: 0

East Asian
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African
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.140974e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2901
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GenotypeQuality
all individuals: 1672
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 9.968102073365231e-5
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65412
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.92e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.52e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.126409e6

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.672004270082733e-5
allele num: 14988
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66124
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.941e1

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

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

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

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

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

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

East Asian
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Latino
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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allele frequency: 1.51285930408472e-4
allele num: 6610
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South Asian
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QD
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ClippingRankSum
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele num: 10366
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South Asian
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Latino
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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FS
type: SiteQuality
SIO_000300: 7.48e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 3.002371873780286e-5
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East Asian
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allele frequency: 0.0e0
allele num: 8604
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African
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South Asian
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European (Finnish)
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Other
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ClippingRankSum
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FS
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SIO_000300: 7.58e-1

MQ
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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QD
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VQSLOD
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MQRankSum
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DP
type: SiteQuality
SIO_000300: 3.325411e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.631e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele frequency: 1.162520344106022e-4
allele num: 8602
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

Latino
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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.359e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66598
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Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Other
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allele num: 906
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South Asian
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allele frequency: 6.081245439065921e-5
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
type: SiteQuality
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.319746e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

African
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allele frequency: 1.93050193050193e-4
allele num: 10360
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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num of homozygotes: 0

MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele num: 8600
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European (Non-Finnish)
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allele frequency: 3.004356316659156e-5
allele num: 66570
num of homozygotes: 0

African
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allele frequency: 8.692292833687463e-4
allele num: 10354
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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DP
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

East Asian
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African
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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MQ
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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African
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Other
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South Asian
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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African
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South Asian
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East Asian
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allele num: 8640
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FS
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BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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African
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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MQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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European (Non-Finnish)
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Latino
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African
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East Asian
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Other
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European (Finnish)
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South Asian
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 2.700918312226157e-4
allele num: 66644
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African
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Latino
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Other
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South Asian
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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variant carriers: 0

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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African
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European (Non-Finnish)
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allele frequency: 1.500510173458976e-5
allele num: 66644
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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SIO_000300: 6.889999999999999e-1

BaseQRankSum
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GenotypeQuality
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variant carriers: 1

East Asian
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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Other
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 7.498725216713158e-5
allele num: 66678
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African
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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QD
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 1.499745043342632e-5
allele num: 66678
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Latino
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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FS
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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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
allele num: 11562
num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499520153550864e-5
allele num: 66688
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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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African
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East Asian
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Other
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MQ
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

Latino
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European (Non-Finnish)
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allele frequency: 2.998860433035446e-5
allele num: 66692
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Other
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BaseQRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-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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East Asian
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European (Finnish)
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African
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Latino
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allele frequency: 1.729505361466621e-4
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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QD
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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allele num: 66712
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African
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Other
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East Asian
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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FS
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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East Asian
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Latino
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European (Non-Finnish)
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num of homozygotes: 0

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

Latino
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Other
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East Asian
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

South Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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FS
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DP
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VQSLOD
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GenotypeQuality
all individuals: 32550
bin: 9.75e1
variant carriers: 1

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: 16508
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.358e0

FS
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 2.540094e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

GenotypeQuality
all individuals: 3581
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.755e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.98e0

FS
type: SiteQuality
SIO_000300: 1.861e0

DP
type: SiteQuality
SIO_000300: 2.540243e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1