12-7080058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080058
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080058
    reference: chr 12
allele count: 2
allele frequency: 2.847623658057351e-5
allele num: 70234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.3G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.-29G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3443G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23378
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9671
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23187
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

12-7080058-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080058
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080057
    reference: chr 12
allele count: 1
allele frequency: 1.423811829028676e-5
allele num: 70234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.5delT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3441delT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.-27delT
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6109
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: GT
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-7080059-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080059
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080059
    reference: chr 12
allele count: 5
allele frequency: 7.046024632902117e-5
allele num: 70962
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.-28T>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.4T>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3442T>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14104
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
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genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD

12-7080059-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080059
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080059
    reference: chr 12
allele count: 32
allele frequency: 4.509455765057355e-4
allele num: 70962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.4T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.-28T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3442T>C
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23327
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14104
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.75e1
  variant carriers: 32
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-7080060-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080060
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080059
    reference: chr 12
allele count: 1
allele frequency: 1.402445865589588e-5
allele num: 71304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.-26delA
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.6delA
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3440delA
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-7080064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080064
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080064
    reference: chr 12
allele count: 1
allele frequency: 1.367390472023191e-5
allele num: 73132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3437G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.-23G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.9G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 16232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-7080065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080065
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080065
    reference: chr 12
allele count: 1
allele frequency: 1.3457139012246e-5
allele num: 74310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.-22C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3436C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.10C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 2.75e1
  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
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  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
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genotype quality: GenotypeQuality
  all individuals: 469
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genotype quality: GenotypeQuality
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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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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 407
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genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

12-7080067-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080067
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080067
    reference: chr 12
allele count: 1
allele frequency: 1.319888073491368e-5
allele num: 75764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.12A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.-20A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3434A>G
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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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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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

12-7080071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080071
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080071
    reference: chr 12
allele count: 27
allele frequency: 3.457903229937758e-4
allele num: 78082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.16C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.-16C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3430C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20564
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17474
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21170
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-7080084-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080084
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080084
    reference: chr 12
allele count: 1
allele frequency: 1.143301397114307e-5
allele num: 87466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.1A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3417A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.-3A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.9A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.29A>G
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18041
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-7080092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080092
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080092
    reference: chr 12
allele count: 1
allele frequency: 1.083658430862592e-5
allele num: 92280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.17C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3409C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.6C>T
  hgvsp: ENST00000261406.6:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.37C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.9C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala2Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-7080098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080098
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080098
    reference: chr 12
allele count: 1
allele frequency: 1.033164583118091e-5
allele num: 96790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3403C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.12C>T
  hgvsp: ENST00000261406.6:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.15C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.23C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.1C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.43C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro4Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-7080099-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080099
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080099
    reference: chr 12
allele count: 7
allele frequency: 7.189958709094271e-5
allele num: 97358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3402A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.16A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.2A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.13A>G
  hgvsp: ENSP00000476966.1:p.Ser5Gly
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.44A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.24A>G
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27910
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser5Gly
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: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-7080101-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080101
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080101
    reference: chr 12
allele count: 421
allele frequency: 4.28481283204755e-3
allele num: 98254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.26T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.46T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.4T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3400T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.15T>C
  hgvsp: ENST00000261406.6:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.18T>C
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 28058
  bin: 2.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 2.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 11003
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 1.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 1.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser5Ser
num of homozygotes: 7
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-7080103-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080103
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080103
    reference: chr 12
allele count: 1
allele frequency: 1.008878127522195e-5
allele num: 99120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.48A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.20A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.17A>G
  hgvsp: ENSP00000476966.1:p.Asp6Gly
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3398A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.28A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.6A>G
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28194
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp6Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-7080105-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080105
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080105
    reference: chr 12
allele count: 1
allele frequency: 1.005045327544272e-5
allele num: 99498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.30G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.19G>C
  hgvsp: ENSP00000476966.1:p.Gly7Arg
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.1G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3396G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.50G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.22G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.8G>C
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly7Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-7080106-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080106
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080106
    reference: chr 12
allele count: 1
allele frequency: 1.001201441730076e-5
allele num: 99880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.51G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.2G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.20G>C
  hgvsp: ENSP00000476966.1:p.Gly7Ala
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.9G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.31G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.23G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3395G>C
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly7Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-7080107-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080107
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080107
    reference: chr 12
allele count: 1
allele frequency: 9.98582013540772e-6
allele num: 100142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.52A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.3A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.21A>G
  hgvsp: ENST00000261406.6:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.24A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.32A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.10A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3394A>G
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly7Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-7080110-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080110
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080111
    reference: chr 12
allele count: 1
allele frequency: 9.946883641355163e-6
allele num: 100534
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3391_105-3390insT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.27_28insT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.55_56insT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.13_14insT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.35_36insT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.24_25insT
  hgvsp: ENSP00000476966.1:p.Lys9Ter
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.6_7insT
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys9Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

12-7080110-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080110
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080110
    reference: chr 12
allele count: 1
allele frequency: 9.946883641355163e-6
allele num: 100534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.24C>T
  hgvsp: ENST00000261406.6:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.55C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.35C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3391C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.27C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.13C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.6C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe8Phe
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-7080113-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080113
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080113
    reference: chr 12
allele count: 1
allele frequency: 9.889631710115115e-6
allele num: 101116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.9G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3388G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.30G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.38G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.27G>T
  hgvsp: ENSP00000476966.1:p.Lys9Asn
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.58G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.16G>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27149
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys9Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

12-7080113-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080113
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080113
    reference: chr 12
allele count: 1
allele frequency: 9.889631710115115e-6
allele num: 101116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.58G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.9G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.30G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.27G>C
  hgvsp: ENSP00000476966.1:p.Lys9Asn
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.16G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.38G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3388G>C
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys9Asn
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/12-7080117-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080117
    reference: chr 12
allele count: 2
allele frequency: 1.968077778433804e-5
allele num: 101622
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.31C>A
  hgvsp: ENSP00000476966.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.13C>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.34C>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.42C>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.62C>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.20C>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3384C>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg11Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-7080123-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080123
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080123
    reference: chr 12
allele count: 1
allele frequency: 9.774024552349676e-6
allele num: 102312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.1C>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.37C>A
  hgvsp: ENST00000261406.6:c.37C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.26C>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.68C>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3378C>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.40C>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.48C>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.19C>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg13Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-7080124-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080124
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080124
    reference: chr 12
allele count: 289
allele frequency: 2.821273770939904e-3
allele num: 102436
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.38G>T
  hgvsp: ENSP00000476966.1:p.Arg13Leu
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.20G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.27G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.41G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.49G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3377G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.2G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.69G>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 2.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24649
  bin: 2.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 1.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29107
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg13Leu
num of homozygotes: 6
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

12-7080127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080127
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080127
    reference: chr 12
allele count: 1
allele frequency: 9.74487906605079e-6
allele num: 102618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.30G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.41G>A
  hgvsp: ENSP00000476966.1:p.Ser14Asn
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.72G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3374G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.23G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.44G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.52G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.5G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15861
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser14Asn
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-7080127-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080127
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080127
    reference: chr 12
allele count: 1
allele frequency: 9.74487906605079e-6
allele num: 102618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.23G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.72G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.30G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.5G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.52G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.44G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3374G>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.41G>C
  hgvsp: ENSP00000476966.1:p.Ser14Thr
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser14Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

12-7080129-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080129
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080129
    reference: chr 12
allele count: 1
allele frequency: 9.719495363800712e-6
allele num: 102886
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.43G>T
  hgvsp: ENSP00000476966.1:p.Gly15Cys
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3372G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.25G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.74G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.54G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.32G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.46G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.7G>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24128
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly15Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-7080130-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080131
    reference: chr 12
allele count: 1
allele frequency: 9.708926386920135e-6
allele num: 102998
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.48dupT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.27dupT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.34dupT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.76dupT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.9dupT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.45dupT
  hgvsp: ENSP00000476966.1:p.Gly16TrpfsTer46
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.56dupT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3370dupT
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly16TrpfsTer46
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

12-7080132-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080132
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080132
    reference: chr 12
allele count: 1
allele frequency: 9.691800736576857e-6
allele num: 103180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.10G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.28G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.35G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.77G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3369G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.57G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.46G>T
  hgvsp: ENSP00000476966.1:p.Gly16Trp
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.49G>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8402
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly16Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-7080133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080133
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080133
    reference: chr 12
allele count: 2
allele frequency: 1.936970964805238e-5
allele num: 103254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.36G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.58G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.11G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.50G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.78G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.29G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.47G>A
  hgvsp: ENSP00000476966.1:p.Gly16Glu
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3368G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23222
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly16Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

12-7080138-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080138
    reference: chr 12
allele count: 1
allele frequency: 9.644503597399841e-6
allele num: 103686
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.52C>G
  hgvsp: ENSP00000476966.1:p.Gln18Glu
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.63C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.34C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.83C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.55C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.41C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.16C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3363C>G
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 22118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9183
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln18Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS

12-7080139-A-AGGCACTGGTGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080139
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080151
    reference: chr 12
allele count: 2
allele frequency: 1.925446703635243e-5
allele num: 103872
alternate allele: AGGCACTGGTGGG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22012
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala19_Gln20insLeuValGlyAla
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-7080141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080141
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080141
    reference: chr 12
allele count: 1
allele frequency: 9.625750808563067e-6
allele num: 103888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.58G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3360G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.86G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.44G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.37G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.19G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.55G>A
  hgvsp: ENSP00000476966.1:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.66G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala19Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff

12-7080141-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080141
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080141
    reference: chr 12
allele count: 2
allele frequency: 1.925150161712613e-5
allele num: 103888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.37G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.44G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.66G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.19G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.86G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.55G>T
  hgvsp: ENSP00000476966.1:p.Ala19Ser
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.58G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3360G>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21055
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala19Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-7080145-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080145
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080145
    reference: chr 12
allele count: 3
allele frequency: 2.87874716923195e-5
allele num: 104212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.62A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.41A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.90A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.23A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.48A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.59A>G
  hgvsp: ENSP00000476966.1:p.Gln20Arg
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.70A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3356A>G
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20454
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10022
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln20Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

12-7080147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080147
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080147
    reference: chr 12
allele count: 1
allele frequency: 9.577443205761789e-6
allele num: 104412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.25G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.64G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.61G>A
  hgvsp: ENSP00000476966.1:p.Asp21Asn
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.72G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.92G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.43G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.50G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3354G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp21Asn
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

12-7080159-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080159
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080159
    reference: chr 12
allele count: 2
allele frequency: 1.908214864993798e-5
allele num: 104810
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.73C>T
  hgvsp: ENST00000261406.6:c.73C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3342C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.76C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.55C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.104C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.62C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.37C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.84C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu25Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

12-7080166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080166
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080166
    reference: chr 12
allele count: 1
allele frequency: 9.543259595747523e-6
allele num: 104786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.83C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.44C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.62C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.69C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.111C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3335C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.80C>T
  hgvsp: ENSP00000476966.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.91C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro27Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/12-7080168-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080168
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080168
    reference: chr 12
allele count: 1
allele frequency: 9.500104501149513e-6
allele num: 105262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3333A>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.93A>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.82A>C
  hgvsp: ENSP00000476966.1:p.Lys28Gln
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.64A>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.46A>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.71A>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.85A>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.113A>C
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14904
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys28Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-7080175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080175
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080175
    reference: chr 12
allele count: 3
allele frequency: 2.850627137970353e-5
allele num: 105240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.78C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.53C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.92C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.89C>T
  hgvsp: ENSP00000476966.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.100C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.120C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3326C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.71C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11476
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro30Leu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

12-7080177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080177
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080177
    reference: chr 12
allele count: 1
allele frequency: 9.53397910151781e-6
allele num: 104888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.102C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.94C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3324C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.73C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.80C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.122C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.91C>T
  hgvsp: ENSP00000476966.1:p.Arg31Ter
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.55C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14248
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg31Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-7080182-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080182
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080183
    reference: chr 12
allele count: 2
allele frequency: 1.936708370453577e-5
allele num: 103268
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3319_105-3318insT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.99_100insT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.85_86insT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.107_108insT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.60_61insT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.96_97insT
  hgvsp: ENSP00000476966.1:p.Gly33TrpfsTer29
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.127_128insT
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.78_79insT
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly33TrpfsTer29
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

12-7080186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080186
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080186
    reference: chr 12
allele count: 17
allele frequency: 1.67868075441888e-4
allele num: 101270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.82G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.64G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.111G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.131G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.89G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.103G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.100G>A
  hgvsp: ENSP00000476966.1:p.Ala34Thr
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3315G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11826
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala34Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-7080186-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080186
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080186
    reference: chr 12
allele count: 1
allele frequency: 9.874592673052236e-6
allele num: 101270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.111G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.103G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.82G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3315G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.100G>T
  hgvsp: ENSP00000476966.1:p.Ala34Ser
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.64G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.131G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.89G>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala34Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

12-7080187-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080187
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080187
    reference: chr 12
allele count: 3319
allele frequency: 3.299270363227897e-2
allele num: 100598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.65C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.83C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.101C>G
  hgvsp: ENSP00000476966.1:p.Ala34Gly
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.112C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.90C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.132C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.104C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3314C>G
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 3.25e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 7.5e0
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 11689
  bin: 1.25e1
  variant carriers: 570
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 2.75e1
  variant carriers: 432
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 2.25e1
  variant carriers: 730
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 13461
  bin: 1.75e1
  variant carriers: 874
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 4
hgvs: p.Ala34Gly
num of homozygotes: 65
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-7080194-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080194
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080194
    reference: chr 12
allele count: 1
allele frequency: 1.30718954248366e-5
allele num: 76500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.139C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.97C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.119C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.111C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.72C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3307C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.108C>T
  hgvsp: ENST00000261406.6:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.90C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10807
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19020
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn36Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-7080199-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080199
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080199
    reference: chr 12
allele count: 2
allele frequency: 7.725587144622991e-5
allele num: 25888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.124T>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.95T>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.113T>G
  hgvsp: ENSP00000476966.1:p.Ile38Ser
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.116T>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.77T>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3302T>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.102T>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.144T>G
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile38Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

12-7080200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080200
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080200
    reference: chr 12
allele count: 1
allele frequency: 7.362685907819172e-5
allele num: 13582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.125C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.117C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.78C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3301C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.103C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.114C>T
  hgvsp: ENST00000261406.6:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.145C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.96C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29991
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile38Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-7080202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080202
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080202
    reference: chr 12
allele count: 6
allele frequency: 3.667481662591687e-3
allele num: 1636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3299G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.80G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.127G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.147G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.105G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.116G>A
  hgvsp: ENSP00000476966.1:p.Gly39Glu
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.119G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.98G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Gly39Glu
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: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

12-7080207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080207
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080207
    reference: chr 12
allele count: 1
allele frequency: 2.5e-1
allele num: 4
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.121C>T
  hgvsp: ENSP00000476966.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.110C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3294C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.103C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.85C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.152C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.124C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.132C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg41Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-7080208-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080208
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080208
    reference: chr 12
allele count: 3
allele frequency: 3.75e-1
allele num: 8
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.104G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.86G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.125G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.111G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.122G>A
  hgvsp: ENSP00000476966.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3293G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.153G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.133G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg41His
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-7080209-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080209
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080209
    reference: chr 12
allele count: 1
allele frequency: 5.0e-1
allele num: 2
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.112T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.105T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.134T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.154T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.123T>C
  hgvsp: ENST00000261406.6:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.126T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3292T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.87T>C
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: c.123T>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

12-7080210-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080210
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080211
    reference: chr 12
allele count: 116091
allele frequency: 9.999741588712595e-1
allele num: 116094
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.136dupG
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.124-1dupG
  hgvsp: ENSP00000476966.1:p.Phe42ValfsTer20
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.107dupG
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3290dupG
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.114dupG
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.156dupG
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.128dupG
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.89dupG
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: coding sequence
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 4155
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 394
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 476
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 2.75e1
  variant carriers: 7604
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 1026
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 7.5e0
  variant carriers: 2243
genotype depth: GenotypeDepth
  all individuals: 13732
  bin: 1.75e1
  variant carriers: 13732
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 550
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 510
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.75e1
  variant carriers: 1938
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 1.25e1
  variant carriers: 8645
genotype depth: GenotypeDepth
  all individuals: 12242
  bin: 2.25e1
  variant carriers: 12242
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.25e1
  variant carriers: 3805
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 663
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 452
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 508
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 437
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 501
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 5.75e1
  variant carriers: 3054
genotype quality: GenotypeQuality
  all individuals: 4917
  bin: 6.75e1
  variant carriers: 4917
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 287
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.25e1
  variant carriers: 819
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 4.25e1
  variant carriers: 2206
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 3.75e1
  variant carriers: 3202
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 31
hgvs: p.Phe42ValfsTer20
num of homozygotes: 58044
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS

12-7080212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080212
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080212
    reference: chr 12
allele count: 116593
allele frequency: 9.999742701293355e-1
allele num: 116596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.90T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.137T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.108T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.157T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.129T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3289T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.115T>C
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.124T>C
  hgvsp: ENSP00000476966.1:p.Phe42Leu
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 1.25e1
  variant carriers: 8012
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 2.75e1
  variant carriers: 7990
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 3.25e1
  variant carriers: 4076
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.75e1
  variant carriers: 2135
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.5e0
  variant carriers: 2002
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 531
genotype depth: GenotypeDepth
  all individuals: 13368
  bin: 1.75e1
  variant carriers: 13368
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 439
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 458
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.75e1
  variant carriers: 464
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 2.25e1
  variant carriers: 12352
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.75e1
  variant carriers: 718
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 1157
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 9.75e1
  variant carriers: 4357
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 499
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.75e1
  variant carriers: 443
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 529
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 1553
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 3.25e1
  variant carriers: 2198
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 3.75e1
  variant carriers: 3202
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 5.75e1
  variant carriers: 3054
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 287
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.75e1
  variant carriers: 730
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 31
hgvs: p.Phe42Leu
num of homozygotes: 58295
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

12-7080220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080220
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080220
    reference: chr 12
allele count: 4
allele frequency: 4.036082578249551e-5
allele num: 99106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.165G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3281G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.123G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.145G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.137G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.116G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.98G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.132G>A
  hgvsp: ENST00000261406.6:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15200
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val44Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-7080233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080233
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080233
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 96040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3268G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.158G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.129G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.136G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.150G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.178G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.145G>A
  hgvsp: ENSP00000476966.1:p.Ala49Thr
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.11G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.111G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15138
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala49Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-7080237-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080237
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080237
    reference: chr 12
allele count: 1
allele frequency: 1.053496555066265e-5
allele num: 94922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3264G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.115G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.140G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.149G>T
  hgvsp: ENSP00000476966.1:p.Ser50Ile
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.154G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.15G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.162G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.133G>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.182G>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser50Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

12-7080239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080239
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080239
    reference: chr 12
allele count: 6
allele frequency: 6.366858379846771e-5
allele num: 94238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.184C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.117C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.164C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.142C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.135C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.17C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.151C>T
  hgvsp: ENST00000261406.6:c.151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.156C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3262C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14189
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12481
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu51Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-7080244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080244
    reference: chr 12
allele count: 1
allele frequency: 1.082485386447283e-5
allele num: 92380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.156G>A
  hgvsp: ENST00000261406.6:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.169G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.189G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.122G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.161G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.22G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.140G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.147G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3257G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu52Glu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-7080247-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080247
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080247
    reference: chr 12
allele count: 2
allele frequency: 2.187752958935877e-5
allele num: 91418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.172A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.25A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.143A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3254A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.125A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.159A>G
  hgvsp: ENST00000261406.6:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.150A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.164A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.192A>G
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr53Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-7080250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080250
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080250
    reference: chr 12
allele count: 1
allele frequency: 1.101176056027838e-5
allele num: 90812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.167C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.153C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.195C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.175C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3251C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.146C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.162C>T
  hgvsp: ENST00000261406.6:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.28C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.128C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val54Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-7080258-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080258
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080258
    reference: chr 12
allele count: 1
allele frequency: 1.127522832337355e-5
allele num: 88690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.178+5T>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.31+5T>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.170+5T>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.149+5T>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.198+5T>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.156+5T>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.165+5T>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3243T>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.136T>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
hgvs: c.165+5T>A
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

12-7080264-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080264
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080264
    reference: chr 12
allele count: 2
allele frequency: 2.310162404417031e-5
allele num: 86574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.156+11A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.170+11A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.178+11A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.165+11A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3237A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.31+11A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.149+11A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.142A>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.198+11A>G
  variant of: http://identifiers.org/hgnc/16912
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-7080282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080282
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080282
    reference: chr 12
allele count: 1
allele frequency: 1.266720713417106e-5
allele num: 78944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.198+29G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.170+29G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.165+29G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.156+29G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.149+29G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.160G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3219G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.178+29G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.31+29G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

12-7080300-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080300
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080300
    reference: chr 12
allele count: 5
allele frequency: 7.788404623196985e-5
allele num: 64198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.198+47A>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3201A>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.156+47A>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.178+47A>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.149+47A>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.31+47A>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.165+47A>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.170+47A>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.178A>T
  variant of: http://identifiers.org/hgnc/16912
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22184
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17473
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4764
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-7080301-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080301
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080301
    reference: chr 12
allele count: 4
allele frequency: 6.212723658051689e-5
allele num: 64384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.31+48C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.156+48C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.170+48C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.178+48C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.179C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.165+48C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.198+48C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3200C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.149+48C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22222
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17441
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15920
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff

12-7080303-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080303
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080303
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 62908
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.165+50C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.156+50C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.178+50C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.149+50C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.181C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3198C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.170+50C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.31+50C>G
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.198+50C>G
  variant of: http://identifiers.org/hgnc/16912
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22310
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4685
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5691
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14200
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-7080303-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7080303
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7080303
    reference: chr 12
allele count: 1
allele frequency: 1.589622941438291e-5
allele num: 62908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-3198C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.198+50C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.170+50C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.31+50C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.165+50C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.149+50C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.178+50C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.181C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.156+50C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17350
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5691
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4741
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-7083453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7083453
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7083453
    reference: chr 12
allele count: 38
allele frequency: 6.644983037806456e-4
allele num: 57186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.157-48G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.166-48G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.32-48G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.171-48G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.179-48G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.150-48G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.194-48G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.199-48G>A
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-48G>A
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24422
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13469
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-7083458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7083458
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7083458
    reference: chr 12
allele count: 1
allele frequency: 1.73238167833137e-5
allele num: 57724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-43C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539196
  gene symbol: EMG1
  hgvsc: ENST00000539196.1:n.32-43C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.194-43C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000451846
  gene symbol: EMG1
  hgvsc: ENST00000451846.2:n.157-43C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.179-43C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.171-43C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl protein: ENSP00000476966
  ensembl transcript: ENST00000261406
  gene symbol: EMG1
  hgvsc: ENST00000261406.6:c.166-43C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539535
  gene symbol: EMG1
  hgvsc: ENST00000539535.2:n.150-43C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.199-43C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

12-7083464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7083464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7083464
    reference: chr 12
allele count: 1
allele frequency: 1.706251706251706e-5
allele num: 58608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000541016
  gene symbol: EMG1
  hgvsc: ENST00000541016.1:n.194-37C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000539440
  gene symbol: EMG1
  hgvsc: ENST00000539440.1:n.179-37C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000546220
  gene symbol: EMG1
  hgvsc: ENST00000546220.1:n.199-37C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000607161
  gene symbol: EMG1
  hgvsc: ENST00000607161.1:n.105-37C>T
  variant of: http://identifiers.org/hgnc/16912
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126749
  ensembl transcript: ENST00000564245
  gene symbol: EMG1
  hgvsc: ENST00000564245.1:n.171-37C>T
  variant of: http://identifiers.org/hgnc/16912
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.057657293141817e-5
allele num: 39544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.009475e6

GenotypeQuality
all individuals: 755
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.528828646570908e-5
allele num: 39544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

DP
type: SiteQuality
SIO_000300: 1.009475e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

GenotypeQuality
all individuals: 839
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.00726052776526e-5
allele num: 39942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 8.532423208191126e-4
allele num: 3516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

DP
type: SiteQuality
SIO_000300: 1.014022e6

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.137e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.17e0

GenotypeQuality
all individuals: 164
bin: 9.25e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.001452105553052e-4
allele num: 39942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3516
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.745505323791238e-4
allele num: 11458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4840
num of homozygotes: 0

African
type: Population
allele count: 26
allele frequency: 4.300363876943433e-3
allele num: 6046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.014022e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.137e1

GenotypeQuality
all individuals: 2705
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.491032283778398e-5
allele num: 40144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3534
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

DP
type: SiteQuality
SIO_000300: 1.021238e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQ
type: SiteQuality
SIO_000300: 6.012e1

QD
type: SiteQuality
SIO_000300: 1.475e1

GenotypeQuality
all individuals: 2270
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.613264427217915e-5
allele num: 11610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

FS
type: SiteQuality
SIO_000300: 4.173e0

VQSLOD
type: SiteQuality
SIO_000300: -1.764e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

QD
type: SiteQuality
SIO_000300: 6.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.055214e6

GenotypeQuality
all individuals: 17295
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.389600458803288e-5
allele num: 41848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5264
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.831e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

QD
type: SiteQuality
SIO_000300: 6.63e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 1.06518e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

VQSLOD
type: SiteQuality
SIO_000300: -1.47e0

GenotypeQuality
all individuals: 466
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5088
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.555693839452396e-4
allele num: 6428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.174e0

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.081478e6

FS
type: SiteQuality
SIO_000300: 9.82e-1

QD
type: SiteQuality
SIO_000300: 4.88e0

GenotypeQuality
all individuals: 381
bin: 9.75e1
variant carriers: 27

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3888
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 4.076086956521739e-3
allele num: 6624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5272
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.119e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.163e0

DP
type: SiteQuality
SIO_000300: 1.113801e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
all individuals: 952
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27032
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.023390392942414e-5
allele num: 49422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4382
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.456e0

DP
type: SiteQuality
SIO_000300: 1.212757e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -1.778e-1

QD
type: SiteQuality
SIO_000300: 8.9e0

GenotypeQuality
all individuals: 16119
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.549907005579665e-4
allele num: 6452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52142
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

DP
type: SiteQuality
SIO_000300: 1.26168e6

VQSLOD
type: SiteQuality
SIO_000300: -4.023e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

QD
type: SiteQuality
SIO_000300: 2.3e0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
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variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.831971567801268e-5
allele num: 54586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.004e0

DP
type: SiteQuality
SIO_000300: 1.302802e6

QD
type: SiteQuality
SIO_000300: 1.159e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

GenotypeQuality
all individuals: 390
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 7.5e0
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GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
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variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.051702913418137e-4
allele num: 4874
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.326507066628209e-4
allele num: 6934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.460502366217692e-5
allele num: 54940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

FS
type: SiteQuality
SIO_000300: 1.4148e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.039e0

DP
type: SiteQuality
SIO_000300: 1.306659e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 3645
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 407
bin: 4.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 399

GenotypeQuality
all individuals: 829
bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 905
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GenotypeQuality
all individuals: 32735
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GenotypeQuality
all individuals: 498
bin: 8.25e1
variant carriers: 2

Other
type: Population
allele count: 1
allele frequency: 1.400560224089636e-3
allele num: 714
num of homozygotes: 0

African
type: Population
allele count: 396
allele frequency: 4.904632152588556e-2
allele num: 8074
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.614414284165251e-5
allele num: 55334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7006
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 2.234242709313264e-3
allele num: 8504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4926
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.190420560747664e-4
allele num: 13696
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 1.318415e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 172
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variant carriers: 0

GenotypeQuality
all individuals: 402
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GenotypeQuality
all individuals: 1402
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GenotypeQuality
all individuals: 13873
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GenotypeQuality
all individuals: 609
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GenotypeQuality
all individuals: 357
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GenotypeQuality
all individuals: 509
bin: 8.25e1
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GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55784
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.255840951966333e-5
allele num: 13782
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.33e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 2.017e0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.184e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e0

DP
type: SiteQuality
SIO_000300: 1.323402e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.433e0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4996
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.231703789412785e-5
allele num: 13828
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.414e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.252e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

DP
type: SiteQuality
SIO_000300: 1.326758e6

QD
type: SiteQuality
SIO_000300: 1.32e1

VQSLOD
type: SiteQuality
SIO_000300: -6.667e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

GenotypeQuality
all individuals: 1415
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3704
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.995211492418196e-4
allele num: 5012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

VQSLOD
type: SiteQuality
SIO_000300: -9.343e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.861e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.329386e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 648
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13804
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56320
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.193209610128039e-5
allele num: 13902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.759e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

DP
type: SiteQuality
SIO_000300: 1.330202e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 2.837e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.825e1

QD
type: SiteQuality
SIO_000300: 1.553e1

GenotypeQuality
all individuals: 13836
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32269
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variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 965
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.769285208775655e-5
allele num: 56520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 3.469e0

QD
type: SiteQuality
SIO_000300: 1.099e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

DP
type: SiteQuality
SIO_000300: 1.334044e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13836
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1005
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.769285208775655e-5
allele num: 56520
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.334044e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 3.469e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

GenotypeQuality
all individuals: 1188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13906
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.759324419422942e-5
allele num: 56840
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.14e0

FS
type: SiteQuality
SIO_000300: 6.052e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.336311e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13906
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.759324419422942e-5
allele num: 56840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14016
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

DP
type: SiteQuality
SIO_000300: 1.336311e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.052e0

QD
type: SiteQuality
SIO_000300: 7.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 31487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 667
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3689
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.963093835885355e-4
allele num: 5094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.103281716152862e-5
allele num: 14078
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.288e0

QD
type: SiteQuality
SIO_000300: 8.57e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

VQSLOD
type: SiteQuality
SIO_000300: -2.056e0

FS
type: SiteQuality
SIO_000300: 6.353e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 1.336275e6

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 200
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.740886459385119e-5
allele num: 57442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.69e-1

DP
type: SiteQuality
SIO_000300: 1.332711e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

FS
type: SiteQuality
SIO_000300: 3.102e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.79e-1

QD
type: SiteQuality
SIO_000300: 8.74e0

GenotypeQuality
all individuals: 1524
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 236
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 568
bin: 9.75e1
variant carriers: 270

GenotypeQuality
all individuals: 227
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3647
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1663
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 879
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 616
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.053180984624065e-5
allele num: 14178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

African
type: Population
allele count: 276
allele frequency: 3.33091962346126e-2
allele num: 8286
num of homozygotes: 6

Other
type: Population
allele count: 1
allele frequency: 1.336898395721925e-3
allele num: 748
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 1.202185792349727e-3
allele num: 9150
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57500
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 1.33118e6

QD
type: SiteQuality
SIO_000300: 1.254e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.736593498193943e-5
allele num: 57584
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5192
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.793e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e0

QD
type: SiteQuality
SIO_000300: 9.02e0

DP
type: SiteQuality
SIO_000300: 1.325444e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.736593498193943e-5
allele num: 57584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9220
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.133e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.172e0

VQSLOD
type: SiteQuality
SIO_000300: -2.793e0

DP
type: SiteQuality
SIO_000300: 1.325444e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.083423618634886e-4
allele num: 9230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14226
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 9.31e0

DP
type: SiteQuality
SIO_000300: 1.329768e6

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 299
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variant carriers: 1

GenotypeQuality
all individuals: 476
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.730343300110742e-5
allele num: 57792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
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MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 1.325403e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.253e0

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 621
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 160
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GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.727951340890241e-5
allele num: 57872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5246
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.268e0

DP
type: SiteQuality
SIO_000300: 1.32619e6

VQSLOD
type: SiteQuality
SIO_000300: -3.696e0

FS
type: SiteQuality
SIO_000300: 4.129e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.437e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.074575542660649e-4
allele num: 9306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14254
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5254
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
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African
type: Population
allele count: 1
allele frequency: 1.201923076923077e-4
allele num: 8320
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7460
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.719276528436834e-5
allele num: 58164
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
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

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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QD
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MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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allele num: 58256
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East Asian
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Other
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MQ
type: SiteQuality
SIO_000300: 5.321e1

BaseQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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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
type: Population
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Latino
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African
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allele num: 8364
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VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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SIO_000300: 2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

MQ
type: SiteQuality
SIO_000300: 6.065e1

FS
type: SiteQuality
SIO_000300: 6.312e0

DP
type: SiteQuality
SIO_000300: 1.311503e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeQuality
all individuals: 71
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.43218012081274e-5
allele num: 58272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 6.312e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.311503e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.065e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 971
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variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.391594767603674e-4
allele num: 14372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.711976991029241e-5
allele num: 58412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

QD
type: SiteQuality
SIO_000300: 1.029e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.308944e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.098e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 4.992e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.483e0

GenotypeQuality
all individuals: 1598
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 25808
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variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.869158878504673e-4
allele num: 5350
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.30487e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.165e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 6.018e1

VQSLOD
type: SiteQuality
SIO_000300: -1.831e0

GenotypeQuality
all individuals: 996
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
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variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 1.75e1
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GenotypeQuality
all individuals: 531
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GenotypeQuality
all individuals: 90
bin: 2.5e0
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GenotypeQuality
all individuals: 299
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 854
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22958
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.381788033715628e-4
allele num: 14474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58646
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

DP
type: SiteQuality
SIO_000300: 1.289435e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.909e0

FS
type: SiteQuality
SIO_000300: 2.331e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

MQ
type: SiteQuality
SIO_000300: 6.05e1

GenotypeQuality
all individuals: 1388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 643
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variant carriers: 0

GenotypeQuality
all individuals: 1689
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variant carriers: 0

GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 154
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variant carriers: 0

GenotypeQuality
all individuals: 298
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variant carriers: 1

GenotypeQuality
all individuals: 959
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.706135262403603e-5
allele num: 58612
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.369e0

MQ
type: SiteQuality
SIO_000300: 6.168e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.655e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

DP
type: SiteQuality
SIO_000300: 1.280607e6

MQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

GenotypeQuality
all individuals: 641
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
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variant carriers: 0

GenotypeQuality
all individuals: 2867
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 776
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 291
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variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.048657718120805e-4
allele num: 9536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58924
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.552e0

MQ
type: SiteQuality
SIO_000300: 6.05e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.293e0

QD
type: SiteQuality
SIO_000300: 1.732e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.28311e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 201
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 448
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variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.089231186808713e-5
allele num: 58948
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.618e0

DP
type: SiteQuality
SIO_000300: 1.281664e6

FS
type: SiteQuality
SIO_000300: 2.984e0

VQSLOD
type: SiteQuality
SIO_000300: -9.202e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

MQ
type: SiteQuality
SIO_000300: 6.19e1

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 815
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 298
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variant carriers: 1

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.193887297039159e-4
allele num: 8376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.599e-1

DP
type: SiteQuality
SIO_000300: 1.282677e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e0

FS
type: SiteQuality
SIO_000300: 3.556e0

MQ
type: SiteQuality
SIO_000300: 6.256e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

QD
type: SiteQuality
SIO_000300: 2.815e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1107
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GenotypeQuality
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GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 445
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.453873519151728e-5
allele num: 57906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.27e-1

QD
type: SiteQuality
SIO_000300: 9.35e0

MQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 3.344e0

MQ
type: SiteQuality
SIO_000300: 6.15e1

DP
type: SiteQuality
SIO_000300: 1.296103e6

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 4940
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56856
num of homozygotes: 0

East Asian
type: Population
allele count: 17
allele frequency: 2.372975991066443e-3
allele num: 7164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.187e0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

FS
type: SiteQuality
SIO_000300: 1.761e0

DP
type: SiteQuality
SIO_000300: 1.309168e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

QD
type: SiteQuality
SIO_000300: 1.043e1

GenotypeQuality
all individuals: 269
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.5e0
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GenotypeQuality
all individuals: 153
bin: 8.75e1
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GenotypeQuality
all individuals: 311
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variant carriers: 1

GenotypeQuality
all individuals: 8709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
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GenotypeQuality
all individuals: 2452
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.395868230039084e-4
allele num: 7164
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.187e0

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

QD
type: SiteQuality
SIO_000300: 1.043e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

DP
type: SiteQuality
SIO_000300: 1.309168e6

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

FS
type: SiteQuality
SIO_000300: 1.761e0

GenotypeQuality
all individuals: 35111
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 248
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 2382
bin: 6.75e1
variant carriers: 15

GenotypeQuality
all individuals: 760
bin: 3.25e1
variant carriers: 12

GenotypeQuality
all individuals: 5923
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 241
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 28

GenotypeQuality
all individuals: 811
bin: 7.75e1
variant carriers: 24

GenotypeQuality
all individuals: 7611
bin: 6.25e1
variant carriers: 21

GenotypeQuality
all individuals: 162
bin: 9.25e1
variant carriers: 29

GenotypeQuality
all individuals: 3218
bin: 9.75e1
variant carriers: 3131

European (Finnish)
type: Population
allele count: 456
allele frequency: 8.504289444237224e-2
allele num: 5362
num of homozygotes: 17

Latino
type: Population
allele count: 98
allele frequency: 1.105346266636589e-2
allele num: 8866
num of homozygotes: 1

South Asian
type: Population
allele count: 163
allele frequency: 1.168961560527826e-2
allele num: 13944
num of homozygotes: 3

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

African
type: Population
allele count: 54
allele frequency: 6.785624528776075e-3
allele num: 7958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2525
allele frequency: 4.450750898963548e-2
allele num: 56732
num of homozygotes: 44

Other
type: Population
allele count: 23
allele frequency: 3.083109919571046e-2
allele num: 746
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.388e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 1.755e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 1.342418e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

GenotypeQuality
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
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variant carriers: 0

GenotypeQuality
all individuals: 930
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 136
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27344
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variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.96078431372549e-4
allele num: 5100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11682
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5842
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
SIO_000300: 6.764e1

FS
type: SiteQuality
SIO_000300: 2.027e0

QD
type: SiteQuality
SIO_000300: 6.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

VQSLOD
type: SiteQuality
SIO_000300: -9.327e-1

DP
type: SiteQuality
SIO_000300: 1.426789e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeQuality
all individuals: 1558
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 34876
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GenotypeQuality
all individuals: 543
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 2

GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.625223468226881e-4
allele num: 12306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 946
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.824e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.72e-2

MQ
type: SiteQuality
SIO_000300: 6.154e1

DP
type: SiteQuality
SIO_000300: 1.755173e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 2.649e0

QD
type: SiteQuality
SIO_000300: 9.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

GenotypeQuality
all individuals: 13
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
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variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 4177
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 317
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5120
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.553760099440646e-4
allele num: 6436
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.482e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.779999999999999e-2

QD
type: SiteQuality
SIO_000300: 2.526e1

MQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 1.905561e6

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

GenotypeQuality
all individuals: 1497
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 5.0e-1
allele num: 8
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.90625e-3
allele num: 512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.312e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

MQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 1.16e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.169999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.906261e6

VQSLOD
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.714e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

DP
type: SiteQuality
SIO_000300: 1.879504e6

MQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.558e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.956e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.0e-1
allele num: 6
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.86e-1

FS
type: SiteQuality
SIO_000300: 3.433e0

MQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.928e-1

DP
type: SiteQuality
SIO_000300: 1.879565e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.03e1

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

GenotypeQuality
all individuals: 1384
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 1.745e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.866e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.599e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

VQSLOD
type: SiteQuality
SIO_000300: -1.138e-1

MQ
type: SiteQuality
SIO_000300: 5.819e1

DP
type: SiteQuality
SIO_000300: 1.883438e6

GenotypeQuality
all individuals: 1929
bin: 9.25e1
variant carriers: 1929

GenotypeQuality
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bin: 7.75e1
variant carriers: 3663

GenotypeQuality
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bin: 8.25e1
variant carriers: 3075

GenotypeQuality
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bin: 2.75e1
variant carriers: 730

GenotypeQuality
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bin: 9.75e1
variant carriers: 15066

GenotypeQuality
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bin: 3.25e1
variant carriers: 2198

GenotypeQuality
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bin: 8.75e1
variant carriers: 1553

GenotypeQuality
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bin: 4.75e1
variant carriers: 4714

GenotypeQuality
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variant carriers: 47

GenotypeQuality
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bin: 7.25e1
variant carriers: 2484

GenotypeQuality
all individuals: 5126
bin: 6.25e1
variant carriers: 5126

GenotypeQuality
all individuals: 5290
bin: 5.25e1
variant carriers: 5290

Latino
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allele count: 11042
allele frequency: 1.0e0
allele num: 11042
num of homozygotes: 5521

East Asian
type: Population
allele count: 8320
allele frequency: 1.0e0
allele num: 8320
num of homozygotes: 4160

African
type: Population
allele count: 9252
allele frequency: 1.0e0
allele num: 9252
num of homozygotes: 4626

South Asian
type: Population
allele count: 15806
allele frequency: 1.0e0
allele num: 15806
num of homozygotes: 7903

European (Non-Finnish)
type: Population
allele count: 64449
allele frequency: 9.999534537330106e-1
allele num: 64452
num of homozygotes: 32223

Other
type: Population
allele count: 854
allele frequency: 1.0e0
allele num: 854
num of homozygotes: 427

European (Finnish)
type: Population
allele count: 6368
allele frequency: 1.0e0
allele num: 6368
num of homozygotes: 3184

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

QD
type: SiteQuality
SIO_000300: 2.9e1

DP
type: SiteQuality
SIO_000300: 1.910974e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

MQ
type: SiteQuality
SIO_000300: 6.114e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 47

GenotypeQuality
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bin: 7.25e1
variant carriers: 2484

GenotypeQuality
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variant carriers: 5126

GenotypeQuality
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variant carriers: 819

GenotypeQuality
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variant carriers: 15066

GenotypeQuality
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variant carriers: 4917

GenotypeQuality
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variant carriers: 5290

GenotypeQuality
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variant carriers: 4714

GenotypeQuality
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bin: 4.25e1
variant carriers: 2206

GenotypeQuality
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variant carriers: 1929

GenotypeQuality
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variant carriers: 3075

GenotypeQuality
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variant carriers: 3663

South Asian
type: Population
allele count: 15862
allele frequency: 1.0e0
allele num: 15862
num of homozygotes: 7931

African
type: Population
allele count: 9306
allele frequency: 1.0e0
allele num: 9306
num of homozygotes: 4653

East Asian
type: Population
allele count: 8366
allele frequency: 1.0e0
allele num: 8366
num of homozygotes: 4183

Latino
type: Population
allele count: 11082
allele frequency: 1.0e0
allele num: 11082
num of homozygotes: 5541

Other
type: Population
allele count: 864
allele frequency: 1.0e0
allele num: 864
num of homozygotes: 432

European (Non-Finnish)
type: Population
allele count: 64699
allele frequency: 9.999536335816512e-1
allele num: 64702
num of homozygotes: 32348

European (Finnish)
type: Population
allele count: 6414
allele frequency: 1.0e0
allele num: 6414
num of homozygotes: 3207

QD
type: SiteQuality
SIO_000300: 2.628e1

FS
type: SiteQuality
SIO_000300: 2.995e0

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 6.113e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.179e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.956381e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -1.274e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2543
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GenotypeQuality
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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: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 403
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.081300813008131e-4
allele num: 7872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.179e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.385e0

FS
type: SiteQuality
SIO_000300: 1.972e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.139e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.259e0

DP
type: SiteQuality
SIO_000300: 1.257784e6

GenotypeQuality
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bin: 9.75e1
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: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 743
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GenotypeQuality
all individuals: 2622
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6946
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.443e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.711e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e0

MQ
type: SiteQuality
SIO_000300: 6.406e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 1.225356e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2814
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.870557426112982e-5
allele num: 53460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.762e0

DP
type: SiteQuality
SIO_000300: 1.206942e6

FS
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQ
type: SiteQuality
SIO_000300: 6.02e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 407
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6782
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13348
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 8.012820512820513e-4
allele num: 7488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
SIO_000300: 1.034e1

DP
type: SiteQuality
SIO_000300: 1.198403e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 549
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.919606864514148e-5
allele num: 52094
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.163446e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.334e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.106e0

MQ
type: SiteQuality
SIO_000300: 6.595e1

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 821
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.878374185541421e-5
allele num: 51568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.055e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

DP
type: SiteQuality
SIO_000300: 1.142621e6

MQ
type: SiteQuality
SIO_000300: 6.434e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4764
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.536098310291859e-4
allele num: 6510
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12998
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.137182e6

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 1.818e1

FS
type: SiteQuality
SIO_000300: 2.337e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.388888888888889e-4
allele num: 7200
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.28e1

FS
type: SiteQuality
SIO_000300: 2.158e0

InbreedingCoeff
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SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.884999999999999e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: -4.137e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

DP
type: SiteQuality
SIO_000300: 1.093289e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.090983472426771e-5
allele num: 48888
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.053388e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.308e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.894e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4100
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.797268152408339e-4
allele num: 5564
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.361e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

DP
type: SiteQuality
SIO_000300: 9.28092e5

MQ
type: SiteQuality
SIO_000300: 5.753e1

FS
type: SiteQuality
SIO_000300: 1.427e1

QD
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.101e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.105033427261175e-4
allele num: 36198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.026634382566586e-4
allele num: 3304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10572
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.338e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 8.48163e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.263552225650066e-5
allele num: 36304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.01568154402895e-4
allele num: 3316
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.532e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

FS
type: SiteQuality
SIO_000300: 5.17e0

QD
type: SiteQuality
SIO_000300: 1.245e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35392
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.568e0

FS
type: SiteQuality
SIO_000300: 5.082e0

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

QD
type: SiteQuality
SIO_000300: 1.097e1

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.47079e5

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.825497287522604e-5
allele num: 35392
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5058
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.082e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.62e-2

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

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

African
type: Population
allele count: 38
allele frequency: 7.462686567164179e-3
allele num: 5092
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 498
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

FS
type: SiteQuality
SIO_000300: 9.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.628e0

DP
type: SiteQuality
SIO_000300: 8.67305e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

GenotypeQuality
all individuals: 4801
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3407
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18683
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5892
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4696
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3562
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3250
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.137353328731882e-5
allele num: 31874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3280
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.173e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 9.48e0

DP
type: SiteQuality
SIO_000300: 8.79232e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.413e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2