20-44987235-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987235
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987235
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 60200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.188T>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.36-38T>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.179T>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-90T>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.9+46T>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-90T>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-90T>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-90T>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-90T>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.685T>A
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22108
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

20-44987248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987248
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987248
    reference: chr 20
allele count: 2
allele frequency: 4.363763309478094e-5
allele num: 45832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.672G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-103G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.9+33G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.36-51G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.166G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-103G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-103G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-103G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-103G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.175G>A
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12531
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP

20-44987256-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987256
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987256
    reference: chr 20
allele count: 2
allele frequency: 5.275374551593163e-5
allele num: 37912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-111C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.9+25C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-111C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.36-59C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-111C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-111C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.158C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-111C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.167C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.664C>T
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19211
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-44987258-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987258
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987258
    reference: chr 20
allele count: 1
allele frequency: 2.790490010045764e-5
allele num: 35836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.165G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-113G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.9+23G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-113G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.156G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.662G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-113G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-113G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-113G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.36-61G>T
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

20-44987258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987258
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987258
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 35836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.156G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-113G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.9+23G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-113G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-113G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.36-61G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-113G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.165G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.662G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-113G>A
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18462
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

20-44987263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987263
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987263
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 30726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.151C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.9+18C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-118C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-118C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-118C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.36-66C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.657C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-118C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-118C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.160C>T
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

20-44987279-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987279
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987279
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 22466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-134A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-134A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-134A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.641A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-134A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.144A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.135A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.9+2A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.35+51A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-134A>C
  variant of: http://identifiers.org/hgnc/17117
canonical: false
consequence: splice donor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10196
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 1.25e1
  variant carriers: 0
hgvs: c.9+2A>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/20-44987288-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987288
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987288
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 20700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-143T>G
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.2T>G
  hgvsp: ENSP00000361303.1:p.Met1?
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.632T>G
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-143T>G
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-143T>G
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.126T>G
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-143T>G
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-143T>G
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.135T>G
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.35+42T>G
  variant of: http://identifiers.org/hgnc/17117
canonical: false
consequence: start lost
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

20-44987298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987298
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987298
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 19356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.125T>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-153T>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-153T>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.35+32T>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-153T>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-153T>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-153T>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.622T>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.116T>C
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-44987305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987305
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987305
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 18852
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-160C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-160C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-160C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-160C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.615C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.109C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-160C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.35+25C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.118C>T
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30113
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29176
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

20-44987308-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987308
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987308
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 18626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-19C>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-163C>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.35+22C>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.106C>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.115C>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-163C>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-163C>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-163C>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-163C>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.612C>A
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28111
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-44987311-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987311
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987311
    reference: chr 20
allele count: 1
allele frequency: 5.399568034557235e-5
allele num: 18520
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-166G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.103G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.35+19G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.609G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.112G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-166G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-166G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-166G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-166G>T
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27162
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-44987318-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987318
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987318
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 18298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-173G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.602G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-29G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-173G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.96G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-173G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-173G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-173G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.105G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.35+12G>T
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20726
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15423
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

20-44987318-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987318
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987318
    reference: chr 20
allele count: 5155
allele frequency: 2.817247786643349e-1
allele num: 18298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-173G>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-29G>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.96G>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-173G>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-173G>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.105G>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-173G>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.35+12G>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-173G>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.602G>C
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 2.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 9.75e1
  variant carriers: 2460
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 20726
  bin: 2.5e0
  variant carriers: 2319
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 7.5e0
  variant carriers: 2273
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.25e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 131
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 270
num of homozygotes: 792
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

20-44987320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987320
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987320
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 17790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-175C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.600C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-175C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.35+10C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-175C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.103C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-175C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-175C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.94C>T
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25856
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

20-44987327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987327
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987327
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 17502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-182G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-182G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.96G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-182G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-182G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.87G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-38G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.35+3G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.593G>A
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-182G>A
  variant of: http://identifiers.org/hgnc/17117
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23063
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 2.5e0
  variant carriers: 0
hgvs: c.35+3G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

20-44987346-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987346
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987346
    reference: chr 20
allele count: 1
allele frequency: 5.994485073732166e-5
allele num: 16682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-201A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-201A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-201A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.574A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-201A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.77A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-201A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-57A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.68A>C
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.19A>C
  hgvsp: ENSP00000439974.1:p.Ser7Arg
  variant of: http://identifiers.org/hgnc/17117
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser7Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/20-44987355-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987355
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987355
    reference: chr 20
allele count: 3
allele frequency: 1.838911364472232e-4
allele num: 16314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-210G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.59G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-210G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.68G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.10G>T
  hgvsp: ENSP00000439974.1:p.Val4Phe
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-210G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-210G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-66G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.565G>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-210G>T
  variant of: http://identifiers.org/hgnc/17117
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val4Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

20-44987377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987377
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987377
    reference: chr 20
allele count: 2
allele frequency: 1.287001287001287e-4
allele num: 15540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-232C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-232C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.543C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-232C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.37C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.46C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-88C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-232C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-232C>T
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

20-44987380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987380
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987380
    reference: chr 20
allele count: 1
allele frequency: 6.47332988089073e-5
allele num: 15448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-235C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-235C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-235C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-91C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.540C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.43C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-235C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.34C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-235C>T
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

20-44987382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44987382
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44987382
    reference: chr 20
allele count: 11
allele frequency: 7.154006243496358e-4
allele num: 15376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361301
  ensembl transcript: ENST00000372227
  gene symbol: SLC35C2
  hgvsc: ENST00000372227.1:c.-237C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000481809
  gene symbol: SLC35C2
  hgvsc: ENST00000481809.1:n.32C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000415736
  ensembl transcript: ENST00000424568
  gene symbol: SLC35C2
  hgvsc: ENST00000424568.1:c.-237C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000439974
  ensembl transcript: ENST00000543605
  gene symbol: SLC35C2
  hgvsc: ENST00000543605.1:c.-18C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361304
  ensembl transcript: ENST00000372230
  gene symbol: SLC35C2
  hgvsc: ENST00000372230.5:c.-237C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000243896
  ensembl transcript: ENST00000243896
  gene symbol: SLC35C2
  hgvsc: ENST00000243896.2:c.-237C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000361303
  ensembl transcript: ENST00000372229
  gene symbol: SLC35C2
  hgvsc: ENST00000372229.1:c.-93C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000080189
  ensembl protein: ENSP00000318960
  ensembl transcript: ENST00000317734
  gene symbol: SLC35C2
  hgvsc: ENST00000317734.8:c.-237C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484318
  gene symbol: SLC35C2
  hgvsc: ENST00000484318.1:n.41C>T
  variant of: http://identifiers.org/hgnc/17117
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000080189
  ensembl transcript: ENST00000484188
  gene symbol: SLC35C2
  hgvsc: ENST00000484188.1:n.538C>T
  variant of: http://identifiers.org/hgnc/17117
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

20-44995968-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44995968
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44995968
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 14638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.*31G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.*31G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1517G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.*31G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.*31G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.*31G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.*31G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.*31G>C
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28283
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23839
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4830
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20349
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-44995979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44995979
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44995979
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 17280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.*20G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1506G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.*20G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.*20G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.*20G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34407
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

20-44995980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44995980
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44995980
    reference: chr 20
allele count: 2
allele frequency: 1.103874599845458e-4
allele num: 18118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.*19C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1505C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.*19C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.*19C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.*19C>T
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35450
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

20-44995982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44995982
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44995982
    reference: chr 20
allele count: 12
allele frequency: 6.295907660020986e-4
allele num: 19060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1503G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.*17G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36444
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12978
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-44995983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44995983
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44995983
    reference: chr 20
allele count: 1
allele frequency: 5.001000200040008e-5
allele num: 19996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.*16C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1502C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

20-44995989-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44995989
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44995989
    reference: chr 20
allele count: 1
allele frequency: 4.448398576512456e-5
allele num: 22480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.*10C>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.*10C>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.*10C>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1496C>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.*10C>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.*10C>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.*10C>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.*10C>G
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8905
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36981
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

20-44996000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996000
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996000
    reference: chr 20
allele count: 1
allele frequency: 3.303164431525401e-5
allele num: 30274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.851G>A
  hgvsp: ENST00000452857.1:c.851G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1898G>A
  hgvsp: ENST00000372176.1:c.1898G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1485G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1613G>A
  hgvsp: ENST00000445496.2:c.1613G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2162G>A
  hgvsp: ENST00000396391.1:c.2162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2198G>A
  hgvsp: ENST00000439931.2:c.2198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2156G>A
  hgvsp: ENST00000352077.2:c.2156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: stop_retained_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2162G>A
  hgvsp: ENST00000290246.6:c.2162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1358G>A
  hgvsp: ENST00000454865.2:c.1358G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ter721Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

20-44996005-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996005
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996005
    reference: chr 20
allele count: 1
allele frequency: 2.818330421058565e-5
allele num: 35482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2151T>A
  hgvsp: ENSP00000326172.4:p.Tyr717Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1608T>A
  hgvsp: ENSP00000409920.2:p.Tyr536Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2157T>A
  hgvsp: ENSP00000379673.1:p.Tyr719Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2193T>A
  hgvsp: ENSP00000396519.2:p.Tyr731Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2157T>A
  hgvsp: ENSP00000290246.6:p.Tyr719Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1353T>A
  hgvsp: ENSP00000415641.2:p.Tyr451Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1480T>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1893T>A
  hgvsp: ENSP00000361249.1:p.Tyr631Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.846T>A
  hgvsp: ENSP00000414329.1:p.Tyr282Ter
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr719Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

20-44996014-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996014
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996014
    reference: chr 20
allele count: 1
allele frequency: 2.284669865204478e-5
allele num: 43770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.837C>G
  hgvsp: ENST00000452857.1:c.837C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1344C>G
  hgvsp: ENST00000454865.2:c.1344C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2148C>G
  hgvsp: ENST00000396391.1:c.2148C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2142C>G
  hgvsp: ENST00000352077.2:c.2142C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2148C>G
  hgvsp: ENST00000290246.6:c.2148C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1884C>G
  hgvsp: ENST00000372176.1:c.1884C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1471C>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2184C>G
  hgvsp: ENST00000439931.2:c.2184C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1599C>G
  hgvsp: ENST00000445496.2:c.1599C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val716Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

20-44996026-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996026
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996026
    reference: chr 20
allele count: 1
allele frequency: 1.781768940203834e-5
allele num: 56124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2130C>G
  hgvsp: ENSP00000326172.4:p.Ser710Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2136C>G
  hgvsp: ENSP00000290246.6:p.Ser712Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1587C>G
  hgvsp: ENSP00000409920.2:p.Ser529Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1332C>G
  hgvsp: ENSP00000415641.2:p.Ser444Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1872C>G
  hgvsp: ENSP00000361249.1:p.Ser624Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2172C>G
  hgvsp: ENSP00000396519.2:p.Ser724Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1459C>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.825C>G
  hgvsp: ENSP00000414329.1:p.Ser275Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2136C>G
  hgvsp: ENSP00000379673.1:p.Ser712Arg
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser712Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

20-44996036-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996036
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996036
    reference: chr 20
allele count: 3
allele frequency: 4.190997736861222e-5
allele num: 71582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1449A>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1322A>T
  hgvsp: ENSP00000415641.2:p.Glu441Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1862A>T
  hgvsp: ENSP00000361249.1:p.Glu621Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2162A>T
  hgvsp: ENSP00000396519.2:p.Glu721Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2120A>T
  hgvsp: ENSP00000326172.4:p.Glu707Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2126A>T
  hgvsp: ENSP00000379673.1:p.Glu709Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.815A>T
  hgvsp: ENSP00000414329.1:p.Glu272Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2126A>T
  hgvsp: ENSP00000290246.6:p.Glu709Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1577A>T
  hgvsp: ENSP00000409920.2:p.Glu526Val
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19149
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu709Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/20-44996037-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996037
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996037
    reference: chr 20
allele count: 3
allele frequency: 4.103181333260388e-5
allele num: 73114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2125G>T
  hgvsp: ENSP00000379673.1:p.Glu709Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2125G>T
  hgvsp: ENSP00000290246.6:p.Glu709Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1861G>T
  hgvsp: ENSP00000361249.1:p.Glu621Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1321G>T
  hgvsp: ENSP00000415641.2:p.Glu441Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2119G>T
  hgvsp: ENSP00000326172.4:p.Glu707Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2161G>T
  hgvsp: ENSP00000396519.2:p.Glu721Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1576G>T
  hgvsp: ENSP00000409920.2:p.Glu526Ter
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1448G>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.814G>T
  hgvsp: ENSP00000414329.1:p.Glu272Ter
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu709Ter
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

20-44996037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996037
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996037
    reference: chr 20
allele count: 3
allele frequency: 4.103181333260388e-5
allele num: 73114
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2125G>A
  hgvsp: ENSP00000290246.6:p.Glu709Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1576G>A
  hgvsp: ENSP00000409920.2:p.Glu526Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.814G>A
  hgvsp: ENSP00000414329.1:p.Glu272Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1861G>A
  hgvsp: ENSP00000361249.1:p.Glu621Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2161G>A
  hgvsp: ENSP00000396519.2:p.Glu721Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2119G>A
  hgvsp: ENSP00000326172.4:p.Glu707Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1321G>A
  hgvsp: ENSP00000415641.2:p.Glu441Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1448G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2125G>A
  hgvsp: ENSP00000379673.1:p.Glu709Lys
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21839
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu709Lys
num of homozygotes: 1
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

20-44996048-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996048
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996048
    reference: chr 20
allele count: 1
allele frequency: 1.136518616174933e-5
allele num: 87988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2108C>G
  hgvsp: ENSP00000326172.4:p.Pro703Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2150C>G
  hgvsp: ENSP00000396519.2:p.Pro717Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.803C>G
  hgvsp: ENSP00000414329.1:p.Pro268Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1310C>G
  hgvsp: ENSP00000415641.2:p.Pro437Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1565C>G
  hgvsp: ENSP00000409920.2:p.Pro522Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1850C>G
  hgvsp: ENSP00000361249.1:p.Pro617Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2114C>G
  hgvsp: ENSP00000290246.6:p.Pro705Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2114C>G
  hgvsp: ENSP00000379673.1:p.Pro705Arg
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1437C>G
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro705Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

20-44996049-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996049
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996049
    reference: chr 20
allele count: 1
allele frequency: 1.114553844096208e-5
allele num: 89722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2149C>G
  hgvsp: ENSP00000396519.2:p.Pro717Ala
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1564C>G
  hgvsp: ENSP00000409920.2:p.Pro522Ala
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1849C>G
  hgvsp: ENSP00000361249.1:p.Pro617Ala
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2107C>G
  hgvsp: ENSP00000326172.4:p.Pro703Ala
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2113C>G
  hgvsp: ENSP00000290246.6:p.Pro705Ala
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1309C>G
  hgvsp: ENSP00000415641.2:p.Pro437Ala
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.802C>G
  hgvsp: ENSP00000414329.1:p.Pro268Ala
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2113C>G
  hgvsp: ENSP00000379673.1:p.Pro705Ala
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1436C>G
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro705Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

20-44996061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996061
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996061
    reference: chr 20
allele count: 3
allele frequency: 2.900400255235223e-5
allele num: 103434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1297G>A
  hgvsp: ENSP00000415641.2:p.Glu433Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1424G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2101G>A
  hgvsp: ENSP00000379673.1:p.Glu701Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1837G>A
  hgvsp: ENSP00000361249.1:p.Glu613Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2095G>A
  hgvsp: ENSP00000326172.4:p.Glu699Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1552G>A
  hgvsp: ENSP00000409920.2:p.Glu518Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2137G>A
  hgvsp: ENSP00000396519.2:p.Glu713Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.790G>A
  hgvsp: ENSP00000414329.1:p.Glu264Lys
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2101G>A
  hgvsp: ENSP00000290246.6:p.Glu701Lys
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33528
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu701Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

20-44996062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996062
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996062
    reference: chr 20
allele count: 2
allele frequency: 1.892147587511826e-5
allele num: 105700
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2136C>T
  hgvsp: ENST00000439931.2:c.2136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1296C>T
  hgvsp: ENST00000454865.2:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2094C>T
  hgvsp: ENST00000352077.2:c.2094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2100C>T
  hgvsp: ENST00000290246.6:c.2100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1551C>T
  hgvsp: ENST00000445496.2:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1423C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2100C>T
  hgvsp: ENST00000396391.1:c.2100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.789C>T
  hgvsp: ENST00000452857.1:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1836C>T
  hgvsp: ENST00000372176.1:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34445
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro700Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

20-44996062-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996062
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996062
    reference: chr 20
allele count: 3
allele frequency: 2.838221381267739e-5
allele num: 105700
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1551C>A
  hgvsp: ENST00000445496.2:c.1551C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2136C>A
  hgvsp: ENST00000439931.2:c.2136C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2100C>A
  hgvsp: ENST00000396391.1:c.2100C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2094C>A
  hgvsp: ENST00000352077.2:c.2094C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2100C>A
  hgvsp: ENST00000290246.6:c.2100C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.789C>A
  hgvsp: ENST00000452857.1:c.789C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1296C>A
  hgvsp: ENST00000454865.2:c.1296C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1836C>A
  hgvsp: ENST00000372176.1:c.1836C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1423C>A
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34445
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9519
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8377
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro700Pro
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

20-44996069-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996069
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996069
    reference: chr 20
allele count: 1
allele frequency: 8.822699040090344e-6
allele num: 113344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.782A>C
  hgvsp: ENSP00000414329.1:p.Gln261Pro
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1544A>C
  hgvsp: ENSP00000409920.2:p.Gln515Pro
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1289A>C
  hgvsp: ENSP00000415641.2:p.Gln430Pro
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1416A>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2093A>C
  hgvsp: ENSP00000379673.1:p.Gln698Pro
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2129A>C
  hgvsp: ENSP00000396519.2:p.Gln710Pro
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2093A>C
  hgvsp: ENSP00000290246.6:p.Gln698Pro
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2087A>C
  hgvsp: ENSP00000326172.4:p.Gln696Pro
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1829A>C
  hgvsp: ENSP00000361249.1:p.Gln610Pro
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln698Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

20-44996071-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996071
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996071
    reference: chr 20
allele count: 2
allele frequency: 1.74797671695013e-5
allele num: 114418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1827C>G
  hgvsp: ENSP00000361249.1:p.Ile609Met
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.780C>G
  hgvsp: ENSP00000414329.1:p.Ile260Met
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2085C>G
  hgvsp: ENSP00000326172.4:p.Ile695Met
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2091C>G
  hgvsp: ENSP00000290246.6:p.Ile697Met
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2091C>G
  hgvsp: ENSP00000379673.1:p.Ile697Met
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1287C>G
  hgvsp: ENSP00000415641.2:p.Ile429Met
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1414C>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1542C>G
  hgvsp: ENSP00000409920.2:p.Ile514Met
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2127C>G
  hgvsp: ENSP00000396519.2:p.Ile709Met
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile697Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

20-44996072-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996072
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996072
    reference: chr 20
allele count: 1
allele frequency: 8.707767328456984e-6
allele num: 114840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2090T>C
  hgvsp: ENSP00000379673.1:p.Ile697Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2090T>C
  hgvsp: ENSP00000290246.6:p.Ile697Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2126T>C
  hgvsp: ENSP00000396519.2:p.Ile709Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.779T>C
  hgvsp: ENSP00000414329.1:p.Ile260Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1413T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1286T>C
  hgvsp: ENSP00000415641.2:p.Ile429Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1541T>C
  hgvsp: ENSP00000409920.2:p.Ile514Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1826T>C
  hgvsp: ENSP00000361249.1:p.Ile609Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2084T>C
  hgvsp: ENSP00000326172.4:p.Ile695Thr
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile697Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

20-44996080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996080
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996080
    reference: chr 20
allele count: 1
allele frequency: 8.518613169775961e-6
allele num: 117390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1818G>A
  hgvsp: ENST00000372176.1:c.1818G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2082G>A
  hgvsp: ENST00000396391.1:c.2082G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.771G>A
  hgvsp: ENST00000452857.1:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1278G>A
  hgvsp: ENST00000454865.2:c.1278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1533G>A
  hgvsp: ENST00000445496.2:c.1533G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2118G>A
  hgvsp: ENST00000439931.2:c.2118G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2076G>A
  hgvsp: ENST00000352077.2:c.2076G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1405G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2082G>A
  hgvsp: ENST00000290246.6:c.2082G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu694Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

20-44996082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996082
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996082
    reference: chr 20
allele count: 2
allele frequency: 1.695921309251251e-5
allele num: 117930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1816C>T
  hgvsp: ENST00000372176.1:c.1816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2116C>T
  hgvsp: ENST00000439931.2:c.2116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1531C>T
  hgvsp: ENST00000445496.2:c.1531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2080C>T
  hgvsp: ENST00000396391.1:c.2080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2074C>T
  hgvsp: ENST00000352077.2:c.2074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1403C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1276C>T
  hgvsp: ENST00000454865.2:c.1276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.769C>T
  hgvsp: ENST00000452857.1:c.769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2080C>T
  hgvsp: ENST00000290246.6:c.2080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11702
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu694Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

20-44996093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996093
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996093
    reference: chr 20
allele count: 1
allele frequency: 8.352544184958738e-6
allele num: 119724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1805G>A
  hgvsp: ENSP00000361249.1:p.Arg602Gln
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2069G>A
  hgvsp: ENSP00000379673.1:p.Arg690Gln
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2063G>A
  hgvsp: ENSP00000326172.4:p.Arg688Gln
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2069G>A
  hgvsp: ENSP00000290246.6:p.Arg690Gln
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1520G>A
  hgvsp: ENSP00000409920.2:p.Arg507Gln
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1265G>A
  hgvsp: ENSP00000415641.2:p.Arg422Gln
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1392G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2105G>A
  hgvsp: ENSP00000396519.2:p.Arg702Gln
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.758G>A
  hgvsp: ENSP00000414329.1:p.Arg253Gln
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg690Gln
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

20-44996094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996094
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996094
    reference: chr 20
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2068C>T
  hgvsp: ENSP00000379673.1:p.Arg690Trp
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1264C>T
  hgvsp: ENSP00000415641.2:p.Arg422Trp
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2062C>T
  hgvsp: ENSP00000326172.4:p.Arg688Trp
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2104C>T
  hgvsp: ENSP00000396519.2:p.Arg702Trp
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1804C>T
  hgvsp: ENSP00000361249.1:p.Arg602Trp
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1391C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1519C>T
  hgvsp: ENSP00000409920.2:p.Arg507Trp
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2068C>T
  hgvsp: ENSP00000290246.6:p.Arg690Trp
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.757C>T
  hgvsp: ENSP00000414329.1:p.Arg253Trp
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg690Trp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-44996095-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996095
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996095
    reference: chr 20
allele count: 23
allele frequency: 1.916123764933269e-4
allele num: 120034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2067G>T
  hgvsp: ENST00000396391.1:c.2067G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1518G>T
  hgvsp: ENST00000445496.2:c.1518G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1803G>T
  hgvsp: ENST00000372176.1:c.1803G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2061G>T
  hgvsp: ENST00000352077.2:c.2061G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.756G>T
  hgvsp: ENST00000452857.1:c.756G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2067G>T
  hgvsp: ENST00000290246.6:c.2067G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2103G>T
  hgvsp: ENST00000439931.2:c.2103G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1263G>T
  hgvsp: ENST00000454865.2:c.1263G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1390G>T
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12564
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu689Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

20-44996095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996095
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996095
    reference: chr 20
allele count: 1
allele frequency: 8.330972891014212e-6
allele num: 120034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2103G>A
  hgvsp: ENST00000439931.2:c.2103G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1263G>A
  hgvsp: ENST00000454865.2:c.1263G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1390G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2067G>A
  hgvsp: ENST00000290246.6:c.2067G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2067G>A
  hgvsp: ENST00000396391.1:c.2067G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1518G>A
  hgvsp: ENST00000445496.2:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2061G>A
  hgvsp: ENST00000352077.2:c.2061G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.756G>A
  hgvsp: ENST00000452857.1:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1803G>A
  hgvsp: ENST00000372176.1:c.1803G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu689Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

20-44996098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996098
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996098
    reference: chr 20
allele count: 155
allele frequency: 1.287888859345919e-3
allele num: 120352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2064G>A
  hgvsp: ENST00000290246.6:c.2064G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2100G>A
  hgvsp: ENST00000439931.2:c.2100G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.753G>A
  hgvsp: ENST00000452857.1:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1387G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2058G>A
  hgvsp: ENST00000352077.2:c.2058G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1260G>A
  hgvsp: ENST00000454865.2:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1800G>A
  hgvsp: ENST00000372176.1:c.1800G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2064G>A
  hgvsp: ENST00000396391.1:c.2064G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1515G>A
  hgvsp: ENST00000445496.2:c.1515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 40233
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12637
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 41588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys688Lys
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

20-44996122-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996122
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996122
    reference: chr 20
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1491C>T
  hgvsp: ENST00000445496.2:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2076C>T
  hgvsp: ENST00000439931.2:c.2076C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2040C>T
  hgvsp: ENST00000396391.1:c.2040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.729C>T
  hgvsp: ENST00000452857.1:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2034C>T
  hgvsp: ENST00000352077.2:c.2034C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1776C>T
  hgvsp: ENST00000372176.1:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1363C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2040C>T
  hgvsp: ENST00000290246.6:c.2040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1236C>T
  hgvsp: ENST00000454865.2:c.1236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp680Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

20-44996127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996127
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996127
    reference: chr 20
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2071C>T
  hgvsp: ENST00000439931.2:c.2071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1231C>T
  hgvsp: ENST00000454865.2:c.1231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.724C>T
  hgvsp: ENST00000452857.1:c.724C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2035C>T
  hgvsp: ENST00000396391.1:c.2035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2035C>T
  hgvsp: ENST00000290246.6:c.2035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1771C>T
  hgvsp: ENST00000372176.1:c.1771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1486C>T
  hgvsp: ENST00000445496.2:c.1486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2029C>T
  hgvsp: ENST00000352077.2:c.2029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1358C>T
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu679Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

20-44996134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996134
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996134
    reference: chr 20
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1764G>A
  hgvsp: ENST00000372176.1:c.1764G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1351G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.717G>A
  hgvsp: ENST00000452857.1:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2022G>A
  hgvsp: ENST00000352077.2:c.2022G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1479G>A
  hgvsp: ENST00000445496.2:c.1479G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2064G>A
  hgvsp: ENST00000439931.2:c.2064G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2028G>A
  hgvsp: ENST00000290246.6:c.2028G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1224G>A
  hgvsp: ENST00000454865.2:c.1224G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2028G>A
  hgvsp: ENST00000396391.1:c.2028G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys676Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

20-44996153-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996153
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996153
    reference: chr 20
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2009T>C
  hgvsp: ENSP00000379673.1:p.Met670Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1205T>C
  hgvsp: ENSP00000415641.2:p.Met402Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.698T>C
  hgvsp: ENSP00000414329.1:p.Met233Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1332T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1745T>C
  hgvsp: ENSP00000361249.1:p.Met582Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2009T>C
  hgvsp: ENSP00000290246.6:p.Met670Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2003T>C
  hgvsp: ENSP00000326172.4:p.Met668Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1460T>C
  hgvsp: ENSP00000409920.2:p.Met487Thr
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2045T>C
  hgvsp: ENSP00000396519.2:p.Met682Thr
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met670Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

20-44996154-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996154
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996154
    reference: chr 20
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.697A>G
  hgvsp: ENSP00000414329.1:p.Met233Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1204A>G
  hgvsp: ENSP00000415641.2:p.Met402Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1744A>G
  hgvsp: ENSP00000361249.1:p.Met582Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2002A>G
  hgvsp: ENSP00000326172.4:p.Met668Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2008A>G
  hgvsp: ENSP00000290246.6:p.Met670Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2044A>G
  hgvsp: ENSP00000396519.2:p.Met682Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1459A>G
  hgvsp: ENSP00000409920.2:p.Met487Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2008A>G
  hgvsp: ENSP00000379673.1:p.Met670Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1331A>G
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met670Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

20-44996155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996155
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996155
    reference: chr 20
allele count: 14
allele frequency: 1.15524895615005e-4
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2007C>T
  hgvsp: ENST00000290246.6:c.2007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.2001C>T
  hgvsp: ENST00000352077.2:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1743C>T
  hgvsp: ENST00000372176.1:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1203C>T
  hgvsp: ENST00000454865.2:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2007C>T
  hgvsp: ENST00000396391.1:c.2007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2043C>T
  hgvsp: ENST00000439931.2:c.2043C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1330C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1458C>T
  hgvsp: ENST00000445496.2:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.696C>T
  hgvsp: ENST00000452857.1:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp669Asp
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: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

20-44996158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996158
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996158
    reference: chr 20
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1740G>A
  hgvsp: ENST00000372176.1:c.1740G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2040G>A
  hgvsp: ENST00000439931.2:c.2040G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1455G>A
  hgvsp: ENST00000445496.2:c.1455G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1200G>A
  hgvsp: ENST00000454865.2:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1327G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1998G>A
  hgvsp: ENST00000352077.2:c.1998G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.2004G>A
  hgvsp: ENST00000396391.1:c.2004G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.2004G>A
  hgvsp: ENST00000290246.6:c.2004G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.693G>A
  hgvsp: ENST00000452857.1:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys668Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-44996176-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996176
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996176
    reference: chr 20
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1986C>A
  hgvsp: ENST00000290246.6:c.1986C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1722C>A
  hgvsp: ENST00000372176.1:c.1722C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2022C>A
  hgvsp: ENST00000439931.2:c.2022C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1980C>A
  hgvsp: ENST00000352077.2:c.1980C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1437C>A
  hgvsp: ENST00000445496.2:c.1437C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.675C>A
  hgvsp: ENST00000452857.1:c.675C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1182C>A
  hgvsp: ENST00000454865.2:c.1182C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1986C>A
  hgvsp: ENST00000396391.1:c.1986C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1309C>A
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu662Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

20-44996182-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996182
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996182
    reference: chr 20
allele count: 120667
allele frequency: 9.950440347000032e-1
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1716T>C
  hgvsp: ENST00000372176.1:c.1716T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1980T>C
  hgvsp: ENST00000396391.1:c.1980T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2016T>C
  hgvsp: ENST00000439931.2:c.2016T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1176T>C
  hgvsp: ENST00000454865.2:c.1176T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1980T>C
  hgvsp: ENST00000290246.6:c.1980T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1303T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1974T>C
  hgvsp: ENST00000352077.2:c.1974T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1431T>C
  hgvsp: ENST00000445496.2:c.1431T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.669T>C
  hgvsp: ENST00000452857.1:c.669T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 5.75e1
  variant carriers: 5595
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.25e1
  variant carriers: 6516
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 3.25e1
  variant carriers: 4659
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 1273
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 875
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 3.75e1
  variant carriers: 5634
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 2.75e1
  variant carriers: 3500
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 5.25e1
  variant carriers: 6480
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 4.75e1
  variant carriers: 6865
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 7.75e1
  variant carriers: 1807
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 6.75e1
  variant carriers: 3473
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 2962
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 7.25e1
  variant carriers: 2519
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 8.75e1
  variant carriers: 892
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 622
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 2079
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 6.25e1
  variant carriers: 4651
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.25e1
  variant carriers: 1687
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.25e1
  variant carriers: 573
hgvs: p.Asp660Asp
num of homozygotes: 60046
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

20-44996187-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996187
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996187
    reference: chr 20
allele count: 1
allele frequency: 8.378296859814337e-6
allele num: 119356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1975A>G
  hgvsp: ENSP00000379673.1:p.Ile659Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2011A>G
  hgvsp: ENSP00000396519.2:p.Ile671Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1426A>G
  hgvsp: ENSP00000409920.2:p.Ile476Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1171A>G
  hgvsp: ENSP00000415641.2:p.Ile391Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1969A>G
  hgvsp: ENSP00000326172.4:p.Ile657Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1711A>G
  hgvsp: ENSP00000361249.1:p.Ile571Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1975A>G
  hgvsp: ENSP00000290246.6:p.Ile659Val
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1298A>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.664A>G
  hgvsp: ENSP00000414329.1:p.Ile222Val
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile659Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

20-44996197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996197
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996197
    reference: chr 20
allele count: 1
allele frequency: 8.47687508476875e-6
allele num: 117968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1416C>T
  hgvsp: ENST00000445496.2:c.1416C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1288C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.654C>T
  hgvsp: ENST00000452857.1:c.654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1701C>T
  hgvsp: ENST00000372176.1:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1965C>T
  hgvsp: ENST00000396391.1:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.2001C>T
  hgvsp: ENST00000439931.2:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1965C>T
  hgvsp: ENST00000290246.6:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1161C>T
  hgvsp: ENST00000454865.2:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1959C>T
  hgvsp: ENST00000352077.2:c.1959C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1965C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

20-44996206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996206
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996206
    reference: chr 20
allele count: 6
allele frequency: 5.143591941705958e-5
allele num: 116650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1963-7C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1699-7C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1957-7C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1963-7C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1414-7C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.1999-7C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1286-7C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1159-7C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.652-7C>T
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12021
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26791
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35649
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1963-7C>T
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

20-44996208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996208
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996208
    reference: chr 20
allele count: 1
allele frequency: 8.588704136319913e-6
allele num: 116432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1414-9T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.1999-9T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1159-9T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1957-9T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1963-9T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1699-9T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.652-9T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1963-9T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1286-9T>C
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8297
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

20-44996209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996209
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996209
    reference: chr 20
allele count: 1
allele frequency: 8.600670852326481e-6
allele num: 116270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1699-10C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1414-10C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1286-10C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1957-10C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.1999-10C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1963-10C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1159-10C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.652-10C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1963-10C>T
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

20-44996216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996216
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996216
    reference: chr 20
allele count: 1
allele frequency: 8.667464073361416e-6
allele num: 115374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1286-17C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.1999-17C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.652-17C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1957-17C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1963-17C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1963-17C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1159-17C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1699-17C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1414-17C>T
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

20-44996217-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996217
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996217
    reference: chr 20
allele count: 1
allele frequency: 8.714596949891067e-6
allele num: 114750
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1414-18G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.652-18G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1699-18G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1159-18G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1957-18G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.1999-18G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1286-18G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1963-18G>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1963-18G>C
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

20-44996222-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996222
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996222
    reference: chr 20
allele count: 1
allele frequency: 8.798169980644026e-6
allele num: 113660
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1963-23A>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1699-23A>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1414-23A>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1159-23A>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1963-23A>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1286-23A>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1957-23A>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.652-23A>G
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.1999-23A>G
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19819
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5626
  bin: 6.75e1
  variant carriers: 0
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: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

20-44996227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996227
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996227
    reference: chr 20
allele count: 1
allele frequency: 8.860064146864424e-6
allele num: 112866
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1963-28G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.1999-28G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1957-28G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1414-28G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.652-28G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1963-28G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1159-28G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1699-28G>A
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1286-28G>A
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4978
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

20-44996228-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996228
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996228
    reference: chr 20
allele count: 1
allele frequency: 8.852691218130311e-6
allele num: 112960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1159-29T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1957-29T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1286-29T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.1999-29T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1699-29T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1414-29T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1963-29T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1963-29T>C
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.652-29T>C
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23851
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

20-44996233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996233
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996233
    reference: chr 20
allele count: 9
allele frequency: 8.055421298533914e-5
allele num: 111726
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1963-34C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1963-34C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.652-34C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1699-34C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1414-34C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1957-34C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.1999-34C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1159-34C>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1286-34C>T
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14388
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14530
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/20-44996236-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44996236
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 44996236
    reference: chr 20
allele count: 1
allele frequency: 9.056330374932077e-6
allele num: 110420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000409920
  ensembl transcript: ENST00000445496
  gene symbol: ELMO2
  hgvsc: ENST00000445496.2:c.1414-37G>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000326172
  ensembl transcript: ENST00000352077
  gene symbol: ELMO2
  hgvsc: ENST00000352077.2:c.1957-37G>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000415641
  ensembl transcript: ENST00000454865
  gene symbol: ELMO2
  hgvsc: ENST00000454865.2:c.1159-37G>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000396519
  ensembl transcript: ENST00000439931
  gene symbol: ELMO2
  hgvsc: ENST00000439931.2:c.1999-37G>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000431972
  ensembl transcript: ENST00000467800
  gene symbol: ELMO2
  hgvsc: ENST00000467800.1:c.*1286-37G>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000290246
  ensembl transcript: ENST00000290246
  gene symbol: ELMO2
  hgvsc: ENST00000290246.6:c.1963-37G>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000379673
  ensembl transcript: ENST00000396391
  gene symbol: ELMO2
  hgvsc: ENST00000396391.1:c.1963-37G>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000361249
  ensembl transcript: ENST00000372176
  gene symbol: ELMO2
  hgvsc: ENST00000372176.1:c.1699-37G>T
  variant of: http://identifiers.org/hgnc/17233
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000062598
  ensembl protein: ENSP00000414329
  ensembl transcript: ENST00000452857
  gene symbol: ELMO2
  hgvsc: ENST00000452857.1:c.652-37G>T
  variant of: http://identifiers.org/hgnc/17233
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11766
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1253
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6241
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34150
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8253
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

QD
type: SiteQuality
SIO_000300: 8.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.91e-2

DP
type: SiteQuality
SIO_000300: 7.61385e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 239
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16500
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27683
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4631
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1542
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.512811781731506e-5
allele num: 23494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 9.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.934e-1

DP
type: SiteQuality
SIO_000300: 6.55644e5

GenotypeQuality
all individuals: 1999
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22366
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21657
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3260
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.048218029350105e-3
allele num: 1908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9366
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

DP
type: SiteQuality
SIO_000300: 5.97807e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 20671
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4124
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23174
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.707762557077625e-5
allele num: 17520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2494
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.306e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

DP
type: SiteQuality
SIO_000300: 5.81758e5

QD
type: SiteQuality
SIO_000300: 9.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.55e-2

GenotypeQuality
all individuals: 794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23174
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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FS
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QD
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GenotypeQuality
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bin: 8.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1782
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.21002e5

InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

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

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

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

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

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 7.16992e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.104e1

QD
type: SiteQuality
SIO_000300: 1.738e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.612e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

GenotypeQuality
all individuals: 1270
bin: 2.25e1
variant carriers: 285

GenotypeQuality
all individuals: 766
bin: 1.25e1
variant carriers: 605

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 56

GenotypeQuality
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bin: 5.25e1
variant carriers: 83

GenotypeQuality
all individuals: 15423
bin: 7.5e0
variant carriers: 1144

GenotypeQuality
all individuals: 5365
bin: 2.5e0
variant carriers: 8

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 61

GenotypeQuality
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bin: 2.75e1
variant carriers: 420

GenotypeQuality
all individuals: 4812
bin: 9.75e1
variant carriers: 4540

GenotypeQuality
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bin: 6.25e1
variant carriers: 213

GenotypeQuality
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bin: 7.75e1
variant carriers: 60

GenotypeQuality
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bin: 5.75e1
variant carriers: 121

GenotypeQuality
all individuals: 471
bin: 7.25e1
variant carriers: 116

GenotypeQuality
all individuals: 862
bin: 6.75e1
variant carriers: 181

GenotypeQuality
all individuals: 708
bin: 1.75e1
variant carriers: 569

GenotypeQuality
all individuals: 348
bin: 8.25e1
variant carriers: 49

European (Non-Finnish)
type: Population
allele count: 1983
allele frequency: 3.030256723716381e-1
allele num: 6544
num of homozygotes: 307

East Asian
type: Population
allele count: 54
allele frequency: 9.540636042402827e-2
allele num: 566
num of homozygotes: 3

Latino
type: Population
allele count: 125
allele frequency: 3.17258883248731e-1
allele num: 394
num of homozygotes: 22

South Asian
type: Population
allele count: 2210
allele frequency: 2.826086956521739e-1
allele num: 7820
num of homozygotes: 322

Other
type: Population
allele count: 68
allele frequency: 2.905982905982906e-1
allele num: 234
num of homozygotes: 7

European (Finnish)
type: Population
allele count: 634
allele frequency: 3.928128872366791e-1
allele num: 1614
num of homozygotes: 127

African
type: Population
allele count: 81
allele frequency: 7.19360568383659e-2
allele num: 1126
num of homozygotes: 4

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.612e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.738e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.104e1

DP
type: SiteQuality
SIO_000300: 7.16992e5

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

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

GenotypeQuality
all individuals: 2713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.181e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.22e-2

QD
type: SiteQuality
SIO_000300: 9.83e0

DP
type: SiteQuality
SIO_000300: 4.47641e5

GenotypeQuality
all individuals: 887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 21706
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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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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bin: 9.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
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: 1056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.26e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 4.33797e5

QD
type: SiteQuality
SIO_000300: 2.856e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14841
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
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variant carriers: 0

GenotypeQuality
all individuals: 1425
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GenotypeQuality
all individuals: 2712
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 377
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variant carriers: 0

GenotypeQuality
all individuals: 176
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
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variant carriers: 0

GenotypeQuality
all individuals: 426
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variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.303780964797914e-4
allele num: 7670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.01078e5

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.573e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.23e-1

QD
type: SiteQuality
SIO_000300: 1.003e1

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: -1.568e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

FS
type: SiteQuality
SIO_000300: 4.035e0

GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12785
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GenotypeQuality
all individuals: 177
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 728
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 1282
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GenotypeQuality
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GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 2407
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GenotypeQuality
all individuals: 410
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.919519205644108e-4
allele num: 7654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: -7.638e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.292e0

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.44e-2

DP
type: SiteQuality
SIO_000300: 3.90255e5

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7927
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GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1723
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 671
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variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 352
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GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 395
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GenotypeQuality
all individuals: 222
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GenotypeQuality
all individuals: 2715
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.302083333333333e-3
allele num: 768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.993620414673046e-4
allele num: 5016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 9.68e0

FS
type: SiteQuality
SIO_000300: 2.031e0

DP
type: SiteQuality
SIO_000300: 3.65019e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 132
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
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GenotypeQuality
all individuals: 1871
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 350
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GenotypeQuality
all individuals: 1612
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.008838891120932e-4
allele num: 4978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.73e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.6171e5

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
all individuals: 392
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variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1609
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GenotypeQuality
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GenotypeQuality
all individuals: 651
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GenotypeQuality
all individuals: 283
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GenotypeQuality
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GenotypeQuality
all individuals: 1892
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GenotypeQuality
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GenotypeQuality
all individuals: 169
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GenotypeQuality
all individuals: 2719
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GenotypeQuality
all individuals: 347
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GenotypeQuality
all individuals: 173
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GenotypeQuality
all individuals: 299
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1182
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.442812172088143e-3
allele num: 7624
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.474e0

DP
type: SiteQuality
SIO_000300: 3.61628e5

FS
type: SiteQuality
SIO_000300: 6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.64e-2

QD
type: SiteQuality
SIO_000300: 1.373e1

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

GenotypeQuality
all individuals: 1163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1188
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.006e0

DP
type: SiteQuality
SIO_000300: 4.16242e5

QD
type: SiteQuality
SIO_000300: 1.56e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 432
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1454
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2870
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.71017e5

VQSLOD
type: SiteQuality
SIO_000300: -4.794e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.294e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.92e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 31980
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.25e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.920122887864823e-4
allele num: 10416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.566e-1

QD
type: SiteQuality
SIO_000300: 5.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.78e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 4.83027e5

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2005
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2034
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.095890410958904e-3
allele num: 10950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 4.332e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.95376e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

QD
type: SiteQuality
SIO_000300: 1.273e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

GenotypeQuality
all individuals: 2201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 268
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GenotypeQuality
all individuals: 11784
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1796
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.310986964618249e-4
allele num: 1074
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.07902e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.37e-2

QD
type: SiteQuality
SIO_000300: 1.207e1

MQRankSum
type: SiteQuality
SIO_000300: -6.63e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 157
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variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1932
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.958579881656805e-4
allele num: 3380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12772
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.38238e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.202e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.033e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.93e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 2.021e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.344e0

MQRankSum
type: SiteQuality
SIO_000300: -1.061e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1216
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.498750624687656e-4
allele num: 4002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.789e0

DP
type: SiteQuality
SIO_000300: 6.03649e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e0

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.016051364365971e-5
allele num: 19936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3992
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3012
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

QD
type: SiteQuality
SIO_000300: 1.205e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.195e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

DP
type: SiteQuality
SIO_000300: 6.43555e5

GenotypeQuality
all individuals: 870
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 549
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.068348250610252e-5
allele num: 24580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.347e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 7.08821e5

QD
type: SiteQuality
SIO_000300: 1.135e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

FS
type: SiteQuality
SIO_000300: 6.767e0

VQSLOD
type: SiteQuality
SIO_000300: -4.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.511e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.168969451134491e-5
allele num: 31556
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.241e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 8.08603e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 5.0e-4
allele num: 6000
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.859e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

FS
type: SiteQuality
SIO_000300: 2.2103e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

DP
type: SiteQuality
SIO_000300: 9.40515e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 2.189e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 4.852798447104497e-4
allele num: 6182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 4.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

QD
type: SiteQuality
SIO_000300: 2.027e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.55848e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.285797551972023e-5
allele num: 41176
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.55848e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

FS
type: SiteQuality
SIO_000300: 4.69e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

QD
type: SiteQuality
SIO_000300: 2.027e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49494
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.282709081580298e-4
allele num: 7796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.266784899923993e-4
allele num: 7894
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.139e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.724256845299676e-5
allele num: 57996
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5212
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.32520540683806e-4
allele num: 7546
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.025220422390814e-4
allele num: 9754
num of homozygotes: 0

Other
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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SIO_000300: 1.13e0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.378264247829465e-5
allele num: 59202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
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African
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.092e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.277687e6

GenotypeQuality
all individuals: 555
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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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: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.19522903556271e-4
allele num: 13666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 1.277687e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.092e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.045150501672241e-4
allele num: 9568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.506e0

QD
type: SiteQuality
SIO_000300: 1.183e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

FS
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.36138e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1452
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10906
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.072109407376709e-4
allele num: 9652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

DP
type: SiteQuality
SIO_000300: 1.374505e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

QD
type: SiteQuality
SIO_000300: 1.581e1

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeQuality
all individuals: 30
bin: 7.5e0
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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GenotypeQuality
all individuals: 289
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GenotypeQuality
all individuals: 490
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564064064064064e-5
allele num: 63936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.379397e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.400409626216078e-5
allele num: 15624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

DP
type: SiteQuality
SIO_000300: 1.41358e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

VQSLOD
type: SiteQuality
SIO_000300: -5.808e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.504e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.75e1
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530971554548516e-5
allele num: 65318
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.068e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 7.181e0

QD
type: SiteQuality
SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 1.421194e6

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51437138443832e-5
allele num: 66034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
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VQSLOD
type: SiteQuality
SIO_000300: -2.168e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.349e0

MQRankSum
type: SiteQuality
SIO_000300: -7.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.45197e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

QD
type: SiteQuality
SIO_000300: 1.786e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.241e0

GenotypeQuality
all individuals: 1884
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.847e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
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ClippingRankSum
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QD
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SIO_000300: 1.49e1

FS
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.45577e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.046e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.621002970470033e-4
allele num: 11446
num of homozygotes: 0

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

African
type: Population
allele count: 20
allele frequency: 1.944768572539868e-3
allele num: 10284
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.268e0

MQRankSum
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -1.51e-1

MQ
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VQSLOD
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QD
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SIO_000300: 1.395e1

ReadPosRankSum
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SIO_000300: 3.34e-1

BaseQRankSum
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SIO_000300: -1.792e0

DP
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SIO_000300: 1.458396e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.174364040503828e-5
allele num: 16196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.268e0

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.458396e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.792e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 153

South Asian
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allele count: 30
allele frequency: 1.843431240014747e-3
allele num: 16274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 107
allele frequency: 1.613973693737179e-3
allele num: 66296
num of homozygotes: 1

Other
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allele count: 2
allele frequency: 2.232142857142857e-3
allele num: 896
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.393728222996516e-3
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 1.208e1

BaseQRankSum
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SIO_000300: -2.014e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

DP
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SIO_000300: 1.465998e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.186e1

MQRankSum
type: SiteQuality
SIO_000300: 8.48e-1

FS
type: SiteQuality
SIO_000300: 2.222e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.478084e6

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
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Other
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

MQRankSum
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.479176e6

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16454
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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Latino
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allele frequency: 8.661008141347653e-5
allele num: 11546
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66594
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

Other
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

South Asian
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African
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allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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QD
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BaseQRankSum
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MQ
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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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: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1189
bin: 9.75e1
variant carriers: 14

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.495145631067961e-4
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

QD
type: SiteQuality
SIO_000300: 1.106e1

DP
type: SiteQuality
SIO_000300: 1.482625e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.871e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

GenotypeQuality
all individuals: 2072
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2712
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7789
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41364
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.48291e6

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: -3.268e-1

QD
type: SiteQuality
SIO_000300: 2.742e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

FS
type: SiteQuality
SIO_000300: 2.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.807e0

GenotypeQuality
all individuals: 2727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 794
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variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002191599867904e-5
allele num: 66618
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

QD
type: SiteQuality
SIO_000300: 8.92e0

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 1.483137e6

FS
type: SiteQuality
SIO_000300: 4.491e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.389e0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 55

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 28

GenotypeQuality
all individuals: 908
bin: 6.75e1
variant carriers: 906

GenotypeQuality
all individuals: 912
bin: 8.75e1
variant carriers: 912

GenotypeQuality
all individuals: 1456
bin: 8.25e1
variant carriers: 1456

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 7

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

GenotypeQuality
all individuals: 4
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variant carriers: 4

GenotypeQuality
all individuals: 317
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variant carriers: 317

GenotypeQuality
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variant carriers: 32

GenotypeQuality
all individuals: 262
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variant carriers: 262

GenotypeQuality
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variant carriers: 128

GenotypeQuality
all individuals: 414
bin: 5.25e1
variant carriers: 414

GenotypeQuality
all individuals: 732
bin: 6.25e1
variant carriers: 721

GenotypeQuality
all individuals: 1235
bin: 7.75e1
variant carriers: 1235

GenotypeQuality
all individuals: 51818
bin: 9.75e1
variant carriers: 51818

South Asian
type: Population
allele count: 16481
allele frequency: 9.999393277514864e-1
allele num: 16482
num of homozygotes: 8240

European (Non-Finnish)
type: Population
allele count: 66623
allele frequency: 9.997448979591836e-1
allele num: 66640
num of homozygotes: 33303

East Asian
type: Population
allele count: 8651
allele frequency: 9.998844197873324e-1
allele num: 8652
num of homozygotes: 4325

Latino
type: Population
allele count: 11549
allele frequency: 9.978399861759115e-1
allele num: 11574
num of homozygotes: 5762

European (Finnish)
type: Population
allele count: 6612
allele frequency: 1.0e0
allele num: 6612
num of homozygotes: 3306

African
type: Population
allele count: 9847
allele frequency: 9.466448759853874e-1
allele num: 10402
num of homozygotes: 4659

Other
type: Population
allele count: 904
allele frequency: 9.977924944812362e-1
allele num: 906
num of homozygotes: 451

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 3.236054e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.94e-2

QD
type: SiteQuality
SIO_000300: 3.428e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
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variant carriers: 0

GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 342
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GenotypeQuality
all individuals: 1786
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variant carriers: 1

GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 9213
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variant carriers: 0

GenotypeQuality
all individuals: 2009
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variant carriers: 0

GenotypeQuality
all individuals: 467
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GenotypeQuality
all individuals: 2260
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variant carriers: 0

GenotypeQuality
all individuals: 141
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GenotypeQuality
all individuals: 629
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39525
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variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.314e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

DP
type: SiteQuality
SIO_000300: 1.694955e6

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 4.972e0

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

GenotypeQuality
all individuals: 343
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8772
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 2091
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variant carriers: 0

GenotypeQuality
all individuals: 2008
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variant carriers: 0

GenotypeQuality
all individuals: 656
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GenotypeQuality
all individuals: 37738
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
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variant carriers: 0

GenotypeQuality
all individuals: 301
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GenotypeQuality
all individuals: 1753
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524111443028714e-5
allele num: 65612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14670
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.959e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 6.235e0

DP
type: SiteQuality
SIO_000300: 1.655322e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

VQSLOD
type: SiteQuality
SIO_000300: -3.136e0

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.064e0

QD
type: SiteQuality
SIO_000300: 4.7e0

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

GenotypeQuality
all individuals: 120
bin: 7.5e0
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GenotypeQuality
all individuals: 1070
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 4991
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GenotypeQuality
all individuals: 1905
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GenotypeQuality
all individuals: 1720
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 420
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GenotypeQuality
all individuals: 1878
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variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 8369
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.262574595055413e-4
allele num: 14076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.187e0

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.464e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.61094e6

GenotypeQuality
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
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variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 5.25e1
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GenotypeQuality
all individuals: 347
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GenotypeQuality
all individuals: 416
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GenotypeQuality
all individuals: 1190
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GenotypeQuality
all individuals: 573
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GenotypeQuality
all individuals: 194
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GenotypeQuality
all individuals: 1858
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 1172
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GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 5336
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variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65076
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.924e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.429e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

DP
type: SiteQuality
SIO_000300: 1.599625e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 2.073e1

GenotypeQuality
all individuals: 8239
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5511
bin: 2.25e1
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GenotypeQuality
all individuals: 1828
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GenotypeQuality
all individuals: 569
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GenotypeQuality
all individuals: 35043
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GenotypeQuality
all individuals: 1834
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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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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53817756721836e-5
allele num: 65012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

FS
type: SiteQuality
SIO_000300: 8.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.295e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

DP
type: SiteQuality
SIO_000300: 1.59446e6

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547269070091289e-5
allele num: 64630
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.042e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.934e-1

QD
type: SiteQuality
SIO_000300: 8.300000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.550573e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.177301624676242e-4
allele num: 8494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.237e0

DP
type: SiteQuality
SIO_000300: 1.516984e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.049e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.684e0

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 3.14e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.705347511172754e-5
allele num: 12978
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

QD
type: SiteQuality
SIO_000300: 5.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 1.420828e6

VQSLOD
type: SiteQuality
SIO_000300: -1.476e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570055893989826e-5
allele num: 63692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.663e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.93e-1

DP
type: SiteQuality
SIO_000300: 1.364228e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.782e0

VQSLOD
type: SiteQuality
SIO_000300: -2.782e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

FS
type: SiteQuality
SIO_000300: 2.609e0

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12660
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.19047619047619e-4
allele num: 8400
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.362402e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.653e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

QD
type: SiteQuality
SIO_000300: 6.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

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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bin: 4.75e1
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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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: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.104151493080845e-5
allele num: 10984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.264382349222405e-4
allele num: 63272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12152
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.253e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.103e1

DP
type: SiteQuality
SIO_000300: 1.280452e6