1-153935072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935072
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935072
    reference: chr 1
allele count: 1
allele frequency: 8.945023883213768e-6
allele num: 111794
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.120C>T
  hgvsp: ENST00000368623.3:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.120C>T
  hgvsp: ENST00000413622.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-56C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.120C>T
  hgvsp: ENST00000310483.6:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.120C>T
  hgvsp: ENST00000356205.4:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.120C>T
  hgvsp: ENST00000417348.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.120C>T
  hgvsp: ENST00000368621.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.422C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.120C>T
  hgvsp: ENST00000429040.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26505
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38714
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu40Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

1-153935077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935077
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935077
    reference: chr 1
allele count: 1
allele frequency: 9.01079493232893e-6
allele num: 110978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.115G>A
  hgvsp: ENSP00000348535.4:p.Val39Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.417G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-61G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.115G>A
  hgvsp: ENSP00000392229.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.115G>A
  hgvsp: ENSP00000392950.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.115G>A
  hgvsp: ENSP00000357612.3:p.Val39Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.115G>A
  hgvsp: ENSP00000309710.6:p.Val39Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.115G>A
  hgvsp: ENSP00000407717.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.115G>A
  hgvsp: ENSP00000357610.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val39Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

1-153935089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935089
    reference: chr 1
allele count: 1
allele frequency: 9.240436148586214e-6
allele num: 108220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.103G>A
  hgvsp: ENSP00000392229.1:p.Val35Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.405G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.103G>A
  hgvsp: ENSP00000348535.4:p.Val35Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.103G>A
  hgvsp: ENSP00000309710.6:p.Val35Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.103G>A
  hgvsp: ENSP00000407717.1:p.Val35Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.103G>A
  hgvsp: ENSP00000392950.1:p.Val35Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.103G>A
  hgvsp: ENSP00000357612.3:p.Val35Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.103G>A
  hgvsp: ENSP00000357610.1:p.Val35Met
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-73G>A
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val35Met
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-153935094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935094
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935094
    reference: chr 1
allele count: 1
allele frequency: 9.315150160220583e-6
allele num: 107352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.98C>T
  hgvsp: ENSP00000348535.4:p.Ala33Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.98C>T
  hgvsp: ENSP00000392950.1:p.Ala33Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.400C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-78C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.98C>T
  hgvsp: ENSP00000407717.1:p.Ala33Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.98C>T
  hgvsp: ENSP00000392229.1:p.Ala33Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.98C>T
  hgvsp: ENSP00000357612.3:p.Ala33Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.98C>T
  hgvsp: ENSP00000309710.6:p.Ala33Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.98C>T
  hgvsp: ENSP00000357610.1:p.Ala33Val
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala33Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-153935122-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935122
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935122
    reference: chr 1
allele count: 2
allele frequency: 2.029138427823546e-5
allele num: 98564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-106C>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.70C>G
  hgvsp: ENSP00000407717.1:p.Pro24Ala
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.70C>G
  hgvsp: ENSP00000357610.1:p.Pro24Ala
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.70C>G
  hgvsp: ENSP00000392950.1:p.Pro24Ala
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.70C>G
  hgvsp: ENSP00000392229.1:p.Pro24Ala
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.372C>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.70C>G
  hgvsp: ENSP00000348535.4:p.Pro24Ala
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.70C>G
  hgvsp: ENSP00000309710.6:p.Pro24Ala
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.70C>G
  hgvsp: ENSP00000357612.3:p.Pro24Ala
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19792
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro24Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-153935123-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935123
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935123
    reference: chr 1
allele count: 1
allele frequency: 1.015496476227227e-5
allele num: 98474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.69G>C
  hgvsp: ENST00000356205.4:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-107G>C
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.69G>C
  hgvsp: ENST00000417348.1:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.69G>C
  hgvsp: ENST00000429040.1:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.69G>C
  hgvsp: ENST00000368621.1:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.69G>C
  hgvsp: ENST00000368623.3:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.69G>C
  hgvsp: ENST00000413622.1:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.69G>C
  hgvsp: ENST00000310483.6:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.371G>C
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val23Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-153935132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935132
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935132
    reference: chr 1
allele count: 2
allele frequency: 2.116043844428456e-5
allele num: 94516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.60G>A
  hgvsp: ENST00000413622.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.60G>A
  hgvsp: ENST00000368621.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.60G>A
  hgvsp: ENST00000356205.4:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.60G>A
  hgvsp: ENST00000417348.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-116G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.60G>A
  hgvsp: ENST00000368623.3:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.60G>A
  hgvsp: ENST00000429040.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.362G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.60G>A
  hgvsp: ENST00000310483.6:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12246
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu20Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-153935144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935144
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935144
    reference: chr 1
allele count: 4
allele frequency: 4.738662749372127e-5
allele num: 84412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.48G>A
  hgvsp: ENST00000429040.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.48G>A
  hgvsp: ENST00000417348.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.48G>A
  hgvsp: ENST00000413622.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.48G>A
  hgvsp: ENST00000356205.4:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.48G>A
  hgvsp: ENST00000368623.3:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.48G>A
  hgvsp: ENST00000368621.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.48G>A
  hgvsp: ENST00000310483.6:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.350G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-128G>A
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12852
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16375
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24378
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala16Ala
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-153935150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935150
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935150
    reference: chr 1
allele count: 18
allele frequency: 2.164970772894566e-4
allele num: 83142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.42C>T
  hgvsp: ENST00000417348.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.42C>T
  hgvsp: ENST00000368621.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.42C>T
  hgvsp: ENST00000413622.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.42C>T
  hgvsp: ENST00000310483.6:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.42C>T
  hgvsp: ENST00000429040.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.42C>T
  hgvsp: ENST00000356205.4:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.42C>T
  hgvsp: ENST00000368623.3:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.344C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-134C>T
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13727
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26008
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Pro14Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-153935162-CAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935162
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935159
    reference: chr 1
allele count: 1
allele frequency: 1.325064928181481e-5
allele num: 75468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-149_-147delCCT
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.329_331delCCT
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.27_29delCCT
  hgvsp: ENSP00000407717.1:p.Leu10del
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.27_29delCCT
  hgvsp: ENSP00000357610.1:p.Leu10del
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.27_29delCCT
  hgvsp: ENSP00000392950.1:p.Leu10del
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.27_29delCCT
  hgvsp: ENSP00000357612.3:p.Leu10del
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.27_29delCCT
  hgvsp: ENSP00000348535.4:p.Leu10del
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.27_29delCCT
  hgvsp: ENSP00000392229.1:p.Leu10del
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.27_29delCCT
  hgvsp: ENSP00000309710.6:p.Leu10del
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16415
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu10del
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CAGG
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-153935178-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935178
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935178
    reference: chr 1
allele count: 2
allele frequency: 3.086991418163858e-5
allele num: 64788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.14G>T
  hgvsp: ENSP00000392950.1:p.Gly5Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.14G>T
  hgvsp: ENSP00000357612.3:p.Gly5Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.14G>T
  hgvsp: ENSP00000309710.6:p.Gly5Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.14G>T
  hgvsp: ENSP00000357610.1:p.Gly5Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.14G>T
  hgvsp: ENSP00000392229.1:p.Gly5Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.14G>T
  hgvsp: ENSP00000348535.4:p.Gly5Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-162G>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.14G>T
  hgvsp: ENSP00000407717.1:p.Gly5Val
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.316G>T
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18877
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly5Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-153935182-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935182
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935182
    reference: chr 1
allele count: 1
allele frequency: 1.576889113157563e-5
allele num: 63416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.10T>C
  hgvsp: ENSP00000392950.1:p.Trp4Arg
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.10T>C
  hgvsp: ENSP00000348535.4:p.Trp4Arg
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-166T>C
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.10T>C
  hgvsp: ENSP00000407717.1:p.Trp4Arg
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.10T>C
  hgvsp: ENSP00000357610.1:p.Trp4Arg
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.10T>C
  hgvsp: ENSP00000309710.6:p.Trp4Arg
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.10T>C
  hgvsp: ENSP00000392229.1:p.Trp4Arg
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.312T>C
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.10T>C
  hgvsp: ENSP00000357612.3:p.Trp4Arg
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp4Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-153935186-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935186
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935186
    reference: chr 1
allele count: 1
allele frequency: 1.645223914974828e-5
allele num: 60782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.6G>T
  hgvsp: ENST00000417348.1:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.6G>T
  hgvsp: ENST00000310483.6:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.6G>T
  hgvsp: ENST00000368623.3:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.6G>T
  hgvsp: ENST00000368621.1:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.6G>T
  hgvsp: ENST00000356205.4:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-170G>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.6G>T
  hgvsp: ENST00000413622.1:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.6G>T
  hgvsp: ENST00000429040.1:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.308G>T
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly2Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-153935216-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935216
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935216
    reference: chr 1
allele count: 1
allele frequency: 2.28320927896251e-5
allele num: 43798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.-25A>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-200A>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.-25A>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.-25A>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.278A>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13108
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-153935231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935231
    reference: chr 1
allele count: 1
allele frequency: 3.254149040026033e-5
allele num: 30730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.-32-8C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.-32-8C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.-32-8C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.271-8C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.-40C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.-32-8C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.-32-8C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.-32-8C>T
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-207-8C>T
  variant of: http://identifiers.org/hgnc/12876
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11787
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28643
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6635
  bin: 1.25e1
  variant carriers: 0
hgvs: c.-32-8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/1-153935236-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935236
    reference: chr 1
allele count: 1
allele frequency: 3.597639948193985e-5
allele num: 27796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.-32-13T>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.-32-13T>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.-32-13T>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.-32-13T>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.-32-13T>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.-32-13T>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.-45T>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-207-13T>G
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.271-13T>G
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29790
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17726
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7745
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17166
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-153935238-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153935238
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153935238
    reference: chr 1
allele count: 16
allele frequency: 6.045035514583648e-4
allele num: 26468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl transcript: ENST00000461071
  gene symbol: SLC39A1
  hgvsc: ENST00000461071.1:n.271-15G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392229
  ensembl transcript: ENST00000413622
  gene symbol: SLC39A1
  hgvsc: ENST00000413622.1:c.-32-15G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357610
  ensembl transcript: ENST00000368621
  gene symbol: SLC39A1
  hgvsc: ENST00000368621.1:c.-32-15G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000392950
  ensembl transcript: ENST00000429040
  gene symbol: SLC39A1
  hgvsc: ENST00000429040.1:c.-32-15G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000348535
  ensembl transcript: ENST00000356205
  gene symbol: SLC39A1
  hgvsc: ENST00000356205.4:c.-32-15G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000407717
  ensembl transcript: ENST00000417348
  gene symbol: SLC39A1
  hgvsc: ENST00000417348.1:c.-32-15G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000357612
  ensembl transcript: ENST00000368623
  gene symbol: SLC39A1
  hgvsc: ENST00000368623.3:c.-47G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000309710
  ensembl transcript: ENST00000310483
  gene symbol: SLC39A1
  hgvsc: ENST00000310483.6:c.-32-15G>A
  variant of: http://identifiers.org/hgnc/12876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143570
  ensembl protein: ENSP00000443632
  ensembl transcript: ENST00000537590
  gene symbol: SLC39A1
  hgvsc: ENST00000537590.1:c.-207-15G>A
  variant of: http://identifiers.org/hgnc/12876
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30236
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9971
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15599
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17503
  bin: 7.5e0
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum

1-153940951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940951
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940951
    reference: chr 1
allele count: 2
allele frequency: 1.735900151023313e-5
allele num: 115214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-47C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-47C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14419
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-153940954-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940954
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940954
    reference: chr 1
allele count: 1
allele frequency: 8.654561819535076e-6
allele num: 115546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-44T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-44T>C
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-153940961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940961
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940961
    reference: chr 1
allele count: 1
allele frequency: 8.627085597943303e-6
allele num: 115914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-37G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-37G>A
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21952
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-153940973-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940973
    reference: chr 1
allele count: 2
allele frequency: 1.710746912101824e-5
allele num: 116908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-25C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-25C>G
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27066
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-153940976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940976
    reference: chr 1
allele count: 7
allele frequency: 5.970047419233787e-5
allele num: 117252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-22C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-22C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13374
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

1-153940977-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940977
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940977
    reference: chr 1
allele count: 1
allele frequency: 8.508465923593976e-6
allele num: 117530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-21G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-21G>C
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-153940980-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940980
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940980
    reference: chr 1
allele count: 1
allele frequency: 8.47615657156419e-6
allele num: 117978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-18C>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-18C>A
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-153940982-ACACGCCTTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940982
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940973
    reference: chr 1
allele count: 1
allele frequency: 8.451942256330504e-6
allele num: 118316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-4-14_-4-6delACGCCTTCC
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: ACACGCCTTC
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

1-153940985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940985
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940985
    reference: chr 1
allele count: 2
allele frequency: 1.685942610513538e-5
allele num: 118628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-13C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-13C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-153940986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940986
    reference: chr 1
allele count: 1
allele frequency: 8.414958430105355e-6
allele num: 118836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-12G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-12G>A
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-153940986-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940986
    reference: chr 1
allele count: 10
allele frequency: 8.414958430105356e-5
allele num: 118836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-12G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-12G>C
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14779
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-153940992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940992
    reference: chr 1
allele count: 86
allele frequency: 7.189793836841842e-4
allele num: 119614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-6C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-6C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30165
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15189
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: c.-4-6C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-153940996-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153940996
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153940996
    reference: chr 1
allele count: 16
allele frequency: 1.333666750020838e-4
allele num: 119970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-4-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.51-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.352-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-198-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.53-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-4-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-4-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-4-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.48-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-4-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.241-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-4-2A>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-4-2A>C
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30119
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: c.-4-2A>C
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

1-153941001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941001
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941001
    reference: chr 1
allele count: 3
allele frequency: 2.493682670567895e-5
allele num: 120304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-195C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.54C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.56C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.-1C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.355C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.-1C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.51C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.-1C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.244C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-153941005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941005
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941005
    reference: chr 1
allele count: 35
allele frequency: 2.904226894800604e-4
allele num: 120514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.4G>A
  hgvsp: ENSP00000271889.4:p.Asp2Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.60G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.4G>A
  hgvsp: ENSP00000402308.1:p.Asp2Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.4G>A
  hgvsp: ENSP00000357590.1:p.Asp2Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.55G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.4G>A
  hgvsp: ENSP00000357592.1:p.Asp2Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.248G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.4G>A
  hgvsp: ENSP00000391847.1:p.Asp2Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.4G>A
  hgvsp: ENSP00000357589.3:p.Asp2Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.4G>A
  hgvsp: ENSP00000357596.3:p.Asp2Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-191G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.359G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.58G>A
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15818
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Asp2Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-153941005-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941005
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941005
    reference: chr 1
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.4G>C
  hgvsp: ENSP00000357592.1:p.Asp2His
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.4G>C
  hgvsp: ENSP00000391847.1:p.Asp2His
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.4G>C
  hgvsp: ENSP00000357589.3:p.Asp2His
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.55G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.4G>C
  hgvsp: ENSP00000402308.1:p.Asp2His
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.58G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.4G>C
  hgvsp: ENSP00000357596.3:p.Asp2His
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.359G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-191G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.60G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.4G>C
  hgvsp: ENSP00000271889.4:p.Asp2His
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.4G>C
  hgvsp: ENSP00000357590.1:p.Asp2His
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.248G>C
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-153941010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941010
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941010
    reference: chr 1
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.364C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.253C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.9C>T
  hgvsp: ENST00000449724.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.9C>T
  hgvsp: ENST00000368601.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.9C>T
  hgvsp: ENST00000368603.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.9C>T
  hgvsp: ENST00000368600.3:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.9C>T
  hgvsp: ENST00000431292.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.9C>T
  hgvsp: ENST00000271889.4:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-186C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.65C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.63C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.9C>T
  hgvsp: ENST00000368607.3:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.60C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu3Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-153941011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941011
    reference: chr 1
allele count: 4
allele frequency: 3.312574532926991e-5
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.10G>A
  hgvsp: ENSP00000402308.1:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.10G>A
  hgvsp: ENSP00000357589.3:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.10G>A
  hgvsp: ENSP00000391847.1:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.10G>A
  hgvsp: ENSP00000357590.1:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.10G>A
  hgvsp: ENSP00000357592.1:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.61G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.254G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.10G>A
  hgvsp: ENSP00000357596.3:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.10G>A
  hgvsp: ENSP00000271889.4:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.66G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-185G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.365G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.64G>A
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly4Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

1-153941012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941012
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941012
    reference: chr 1
allele count: 25
allele frequency: 2.069639220491084e-4
allele num: 120794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.11G>A
  hgvsp: ENSP00000402308.1:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.65G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.11G>A
  hgvsp: ENSP00000357590.1:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.11G>A
  hgvsp: ENSP00000271889.4:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-184G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.67G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.11G>A
  hgvsp: ENSP00000391847.1:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.11G>A
  hgvsp: ENSP00000357592.1:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.255G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.11G>A
  hgvsp: ENSP00000357589.3:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.366G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.11G>A
  hgvsp: ENSP00000357596.3:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.62G>A
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly4Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

1-153941030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941030
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941030
    reference: chr 1
allele count: 2
allele frequency: 1.652127940787734e-5
allele num: 121056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-166A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.29A>G
  hgvsp: ENSP00000402308.1:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.85A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.29A>G
  hgvsp: ENSP00000357589.3:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.29A>G
  hgvsp: ENSP00000357592.1:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.29A>G
  hgvsp: ENSP00000357590.1:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.29A>G
  hgvsp: ENSP00000271889.4:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.29A>G
  hgvsp: ENSP00000391847.1:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.83A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.80A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.384A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.273A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.29A>G
  hgvsp: ENSP00000357596.3:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp10Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

1-153941031-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941031
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941031
    reference: chr 1
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.84C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.30C>G
  hgvsp: ENSP00000391847.1:p.Asp10Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.30C>G
  hgvsp: ENSP00000357592.1:p.Asp10Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.30C>G
  hgvsp: ENSP00000357590.1:p.Asp10Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.385C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.30C>G
  hgvsp: ENSP00000402308.1:p.Asp10Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.30C>G
  hgvsp: ENSP00000357589.3:p.Asp10Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.86C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.30C>G
  hgvsp: ENSP00000357596.3:p.Asp10Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.30C>G
  hgvsp: ENSP00000271889.4:p.Asp10Glu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.81C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-165C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.274C>G
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp10Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-153941031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941031
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941031
    reference: chr 1
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.30C>T
  hgvsp: ENST00000368607.3:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.30C>T
  hgvsp: ENST00000368600.3:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.30C>T
  hgvsp: ENST00000368603.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.81C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.274C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.385C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-165C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.30C>T
  hgvsp: ENST00000449724.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.30C>T
  hgvsp: ENST00000368601.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.30C>T
  hgvsp: ENST00000431292.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.84C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.30C>T
  hgvsp: ENST00000271889.4:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.86C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp10Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

1-153941033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941033
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941033
    reference: chr 1
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.32C>T
  hgvsp: ENSP00000391847.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.32C>T
  hgvsp: ENSP00000357589.3:p.Ala11Val
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.32C>T
  hgvsp: ENSP00000357592.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-163C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.32C>T
  hgvsp: ENSP00000357596.3:p.Ala11Val
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.32C>T
  hgvsp: ENSP00000271889.4:p.Ala11Val
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.83C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.86C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.32C>T
  hgvsp: ENSP00000357590.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.387C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.32C>T
  hgvsp: ENSP00000402308.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.276C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.88C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala11Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-153941034-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941034
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941034
    reference: chr 1
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.388G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.33G>T
  hgvsp: ENST00000368607.3:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.33G>T
  hgvsp: ENST00000368603.1:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.277G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.33G>T
  hgvsp: ENST00000271889.4:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.87G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.33G>T
  hgvsp: ENST00000431292.1:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.33G>T
  hgvsp: ENST00000368600.3:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.84G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.33G>T
  hgvsp: ENST00000368601.1:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.89G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.33G>T
  hgvsp: ENST00000449724.1:c.33G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-162G>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala11Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-153941045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941045
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941045
    reference: chr 1
allele count: 6
allele frequency: 4.954092080058128e-5
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.44C>T
  hgvsp: ENSP00000357596.3:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.44C>T
  hgvsp: ENSP00000357590.1:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.44C>T
  hgvsp: ENSP00000402308.1:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.44C>T
  hgvsp: ENSP00000391847.1:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.44C>T
  hgvsp: ENSP00000271889.4:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.98C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.100C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.44C>T
  hgvsp: ENSP00000357592.1:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.44C>T
  hgvsp: ENSP00000357589.3:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.288C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.399C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.95C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-151C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro15Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

1-153941047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941047
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941047
    reference: chr 1
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.46C>T
  hgvsp: ENSP00000357590.1:p.Pro16Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.290C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.46C>T
  hgvsp: ENSP00000357592.1:p.Pro16Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.46C>T
  hgvsp: ENSP00000271889.4:p.Pro16Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.46C>T
  hgvsp: ENSP00000391847.1:p.Pro16Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.46C>T
  hgvsp: ENSP00000357589.3:p.Pro16Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.46C>T
  hgvsp: ENSP00000357596.3:p.Pro16Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.97C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.102C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.401C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-149C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.46C>T
  hgvsp: ENSP00000402308.1:p.Pro16Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.100C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro16Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-153941049-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941049
    reference: chr 1
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.48A>G
  hgvsp: ENST00000368600.3:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.48A>G
  hgvsp: ENST00000271889.4:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.102A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.48A>G
  hgvsp: ENST00000449724.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.104A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.403A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.48A>G
  hgvsp: ENST00000368607.3:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.99A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.292A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.48A>G
  hgvsp: ENST00000431292.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.48A>G
  hgvsp: ENST00000368603.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.48A>G
  hgvsp: ENST00000368601.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-147A>G
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro16Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-153941053-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941053
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941053
    reference: chr 1
allele count: 4
allele frequency: 3.302564441288661e-5
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.52G>T
  hgvsp: ENSP00000391847.1:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.103G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-143G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.52G>T
  hgvsp: ENSP00000271889.4:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.52G>T
  hgvsp: ENSP00000357592.1:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.52G>T
  hgvsp: ENSP00000357589.3:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.52G>T
  hgvsp: ENSP00000402308.1:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.108G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.106G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.52G>T
  hgvsp: ENSP00000357596.3:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.407G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.296G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.52G>T
  hgvsp: ENSP00000357590.1:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp18Tyr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-153941055-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941055
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941055
    reference: chr 1
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.54T>C
  hgvsp: ENST00000431292.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.54T>C
  hgvsp: ENST00000368607.3:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.298T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.108T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.110T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.54T>C
  hgvsp: ENST00000271889.4:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.54T>C
  hgvsp: ENST00000368600.3:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.409T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.54T>C
  hgvsp: ENST00000368601.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.54T>C
  hgvsp: ENST00000368603.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.54T>C
  hgvsp: ENST00000449724.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-141T>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.105T>C
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp18Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

1-153941061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941061
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941061
    reference: chr 1
allele count: 2
allele frequency: 1.651145895251304e-5
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.60C>T
  hgvsp: ENST00000368600.3:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.114C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.60C>T
  hgvsp: ENST00000368603.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.60C>T
  hgvsp: ENST00000368601.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.60C>T
  hgvsp: ENST00000449724.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.60C>T
  hgvsp: ENST00000431292.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-135C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.116C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.60C>T
  hgvsp: ENST00000271889.4:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.60C>T
  hgvsp: ENST00000368607.3:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.111C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.304C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.415C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe20Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

1-153941064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941064
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941064
    reference: chr 1
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.63G>A
  hgvsp: ENST00000368601.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.63G>A
  hgvsp: ENST00000368600.3:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.63G>A
  hgvsp: ENST00000368607.3:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-132G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.63G>A
  hgvsp: ENST00000449724.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.63G>A
  hgvsp: ENST00000368603.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.63G>A
  hgvsp: ENST00000431292.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.307G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.119G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.418G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.63G>A
  hgvsp: ENST00000271889.4:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.114G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.117G>A
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser21Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-153941066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941066
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941066
    reference: chr 1
allele count: 2
allele frequency: 1.651773178507128e-5
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.65C>T
  hgvsp: ENSP00000357592.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.116C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.65C>T
  hgvsp: ENSP00000402308.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.65C>T
  hgvsp: ENSP00000357590.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-130C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.65C>T
  hgvsp: ENSP00000357589.3:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.309C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.119C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.65C>T
  hgvsp: ENSP00000391847.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.65C>T
  hgvsp: ENSP00000271889.4:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.65C>T
  hgvsp: ENSP00000357596.3:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.121C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.420C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr22Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

1-153941069-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941069
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941069
    reference: chr 1
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.124G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-127G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.68G>C
  hgvsp: ENSP00000357596.3:p.Gly23Ala
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.119G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.68G>C
  hgvsp: ENSP00000357592.1:p.Gly23Ala
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.68G>C
  hgvsp: ENSP00000357589.3:p.Gly23Ala
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.68G>C
  hgvsp: ENSP00000357590.1:p.Gly23Ala
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.68G>C
  hgvsp: ENSP00000391847.1:p.Gly23Ala
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.68G>C
  hgvsp: ENSP00000271889.4:p.Gly23Ala
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.122G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.68G>C
  hgvsp: ENSP00000402308.1:p.Gly23Ala
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.312G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.423G>C
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly23Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-153941074-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941074
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941074
    reference: chr 1
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.73G>T
  hgvsp: ENSP00000357589.3:p.Val25Phe
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-122G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.317G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.73G>T
  hgvsp: ENSP00000391847.1:p.Val25Phe
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.129G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.428G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.73G>T
  hgvsp: ENSP00000402308.1:p.Val25Phe
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.73G>T
  hgvsp: ENSP00000357592.1:p.Val25Phe
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.73G>T
  hgvsp: ENSP00000271889.4:p.Val25Phe
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.127G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.73G>T
  hgvsp: ENSP00000357596.3:p.Val25Phe
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.124G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.73G>T
  hgvsp: ENSP00000357590.1:p.Val25Phe
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val25Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

1-153941080-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941080
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941080
    reference: chr 1
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.79G>T
  hgvsp: ENSP00000402308.1:p.Glu27Ter
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.79G>T
  hgvsp: ENSP00000271889.4:p.Glu27Ter
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.135G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-116G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.79G>T
  hgvsp: ENSP00000357596.3:p.Glu27Ter
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.79G>T
  hgvsp: ENSP00000357589.3:p.Glu27Ter
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.323G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.79G>T
  hgvsp: ENSP00000391847.1:p.Glu27Ter
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.79G>T
  hgvsp: ENSP00000357592.1:p.Glu27Ter
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.434G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.130G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.133G>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.79G>T
  hgvsp: ENSP00000357590.1:p.Glu27Ter
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu27Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-153941084-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941084
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941083
    reference: chr 1
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.86delG
  hgvsp: ENSP00000391847.1:p.Gly29AspfsTer21
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.86delG
  hgvsp: ENSP00000271889.4:p.Gly29AspfsTer11
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-109delG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.86delG
  hgvsp: ENSP00000357590.1:p.Gly29AspfsTer11
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.86delG
  hgvsp: ENSP00000357592.1:p.Gly29AspfsTer11
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.137delG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.86delG
  hgvsp: ENSP00000357596.3:p.Gly29AspfsTer11
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.142delG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.86delG
  hgvsp: ENSP00000402308.1:p.Gly29AspfsTer11
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.441delG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.86delG
  hgvsp: ENSP00000357589.3:p.Gly29AspfsTer21
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.140delG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.330delG
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly29AspfsTer11
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: TG
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

1-153941096-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941096
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941097
    reference: chr 1
allele count: 3
allele frequency: 2.487850994311114e-5
allele num: 120586
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.152dupC
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.101dupC
  hgvsp: ENSP00000357589.3:p.Pro35SerfsTer10
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.101dupC
  hgvsp: ENSP00000402308.1:p.Pro35SerfsTer7
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.456dupC
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.101dupC
  hgvsp: ENSP00000391847.1:p.Pro35SerfsTer10
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.155dupC
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.101dupC
  hgvsp: ENSP00000271889.4:p.Pro35SerfsTer7
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.345dupC
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.101dupC
  hgvsp: ENSP00000357596.3:p.Pro35SerfsTer7
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.101dupC
  hgvsp: ENSP00000357592.1:p.Pro35SerfsTer7
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.157dupC
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-94dupC
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.101dupC
  hgvsp: ENSP00000357590.1:p.Pro35SerfsTer7
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro35SerfsTer7
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-153941100-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941100
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941100
    reference: chr 1
allele count: 45
allele frequency: 3.731528931787651e-4
allele num: 120594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.454C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.99C>G
  hgvsp: ENST00000368601.1:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.99C>G
  hgvsp: ENST00000368607.3:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.99C>G
  hgvsp: ENST00000271889.4:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.155C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.99C>G
  hgvsp: ENST00000431292.1:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.99C>G
  hgvsp: ENST00000449724.1:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.150C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.99C>G
  hgvsp: ENST00000368600.3:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.99C>G
  hgvsp: ENST00000368603.1:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.153C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-96C>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.343C>G
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29593
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro33Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-153941105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941105
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941105
    reference: chr 1
allele count: 42
allele frequency: 3.486345148169669e-4
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.158C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.104C>T
  hgvsp: ENSP00000402308.1:p.Pro35Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.104C>T
  hgvsp: ENSP00000357592.1:p.Pro35Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.160C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.348C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.104C>T
  hgvsp: ENSP00000357590.1:p.Pro35Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.104C>T
  hgvsp: ENSP00000391847.1:p.Pro35Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-91C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.104C>T
  hgvsp: ENSP00000357589.3:p.Pro35Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.155C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.104C>T
  hgvsp: ENSP00000271889.4:p.Pro35Leu
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.459C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.104C>T
  hgvsp: ENSP00000357596.3:p.Pro35Leu
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8488
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15926
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro35Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-153941106-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941106
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941106
    reference: chr 1
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.161A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.105A>G
  hgvsp: ENST00000431292.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.105A>G
  hgvsp: ENST00000368601.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.105A>G
  hgvsp: ENST00000271889.4:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.349A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-90A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.105A>G
  hgvsp: ENST00000368600.3:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.156A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.105A>G
  hgvsp: ENST00000368607.3:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.105A>G
  hgvsp: ENST00000449724.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.105A>G
  hgvsp: ENST00000368603.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.159A>G
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.460A>G
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro35Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-153941115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941115
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941115
    reference: chr 1
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.170G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.114G>A
  hgvsp: ENST00000431292.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.358G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.168G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.114G>A
  hgvsp: ENST00000368601.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.114G>A
  hgvsp: ENST00000271889.4:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.469G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.165G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.114G>A
  hgvsp: ENST00000449724.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.114G>A
  hgvsp: ENST00000368607.3:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.114G>A
  hgvsp: ENST00000368600.3:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.114G>A
  hgvsp: ENST00000368603.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-81G>A
  variant of: http://identifiers.org/hgnc/18854
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.114G>A
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-153941122-A-AGGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941122
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941126
    reference: chr 1
allele count: 1
allele frequency: 8.316146630297385e-6
allele num: 120248
alternate allele: AGGCT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.122_125dupGGCT
  hgvsp: ENSP00000271889.4:p.Gln43AlafsTer23
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.477_480dupGGCT
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.122_125dupGGCT
  hgvsp: ENSP00000402308.1:p.Gln43AlafsTer23
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.114+8_114+11dupGGCT
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.122_125dupGGCT
  hgvsp: ENSP00000357596.3:p.Gln43AlafsTer23
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.178_181dupGGCT
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.122_125dupGGCT
  hgvsp: ENSP00000357590.1:p.Gln43AlafsTer23
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.114+8_114+11dupGGCT
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.173_176dupGGCT
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.168+8_168+11dupGGCT
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.122_125dupGGCT
  hgvsp: ENSP00000357592.1:p.Gln43AlafsTer23
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.358+8_358+11dupGGCT
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-73_-70dupGGCT
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln43AlafsTer23
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-153941124-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941124
    reference: chr 1
allele count: 18
allele frequency: 1.497180310415384e-4
allele num: 120226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.123G>C
  hgvsp: ENSP00000402308.1:p.Arg41Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.174G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-72G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.123G>C
  hgvsp: ENSP00000357596.3:p.Arg41Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.358+9G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.123G>C
  hgvsp: ENSP00000357590.1:p.Arg41Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.478G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.179G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.123G>C
  hgvsp: ENSP00000357592.1:p.Arg41Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.123G>C
  hgvsp: ENSP00000271889.4:p.Arg41Ser
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.168+9G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.114+9G>C
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.114+9G>C
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg41Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

1-153941127-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941127
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941127
    reference: chr 1
allele count: 1
allele frequency: 8.32251406504877e-6
allele num: 120156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.182A>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.126A>T
  hgvsp: ENST00000271889.4:c.126A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.114+12A>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-69A>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.126A>T
  hgvsp: ENST00000368603.1:c.126A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.126A>T
  hgvsp: ENST00000368607.3:c.126A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.177A>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.126A>T
  hgvsp: ENST00000431292.1:c.126A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.481A>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.126A>T
  hgvsp: ENST00000368601.1:c.126A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.358+12A>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.168+12A>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.114+12A>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu42Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-153941164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941164
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941164
    reference: chr 1
allele count: 1
allele frequency: 8.39630562552477e-6
allele num: 119100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.214G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-32G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.163G>A
  hgvsp: ENSP00000271889.4:p.Asp55Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.518G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.114+49G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.168+49G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.219G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.163G>A
  hgvsp: ENSP00000402308.1:p.Asp55Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.163G>A
  hgvsp: ENSP00000357596.3:p.Asp55Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.114+49G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.163G>A
  hgvsp: ENSP00000357592.1:p.Asp55Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.163G>A
  hgvsp: ENSP00000357590.1:p.Asp55Asn
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.358+49G>A
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp55Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-153941166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941166
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941166
    reference: chr 1
allele count: 1
allele frequency: 8.399267583866688e-6
allele num: 119058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-30C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.165C>T
  hgvsp: ENST00000271889.4:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.520C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.216C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.168+51C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.114+51C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.221C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.165C>T
  hgvsp: ENST00000368607.3:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.165C>T
  hgvsp: ENST00000368603.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.165C>T
  hgvsp: ENST00000368601.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.165C>T
  hgvsp: ENST00000431292.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.114+51C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.358+51C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp55Asp
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-153941167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941167
    reference: chr 1
allele count: 3
allele frequency: 2.520330667383561e-5
allele num: 119032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.222C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.217C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.166C>T
  hgvsp: ENSP00000402308.1:p.Arg56Cys
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.114+52C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.166C>T
  hgvsp: ENSP00000357590.1:p.Arg56Cys
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.521C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.166C>T
  hgvsp: ENSP00000357596.3:p.Arg56Cys
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.114+52C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.166C>T
  hgvsp: ENSP00000271889.4:p.Arg56Cys
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.166C>T
  hgvsp: ENSP00000357592.1:p.Arg56Cys
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-29C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.168+52C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.358+52C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg56Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-153941168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941168
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941168
    reference: chr 1
allele count: 2
allele frequency: 1.681180861437073e-5
allele num: 118964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.167G>A
  hgvsp: ENSP00000357590.1:p.Arg56His
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.223G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.114+53G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.167G>A
  hgvsp: ENSP00000271889.4:p.Arg56His
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.522G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.358+53G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-28G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.168+53G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.167G>A
  hgvsp: ENSP00000357596.3:p.Arg56His
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.218G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.167G>A
  hgvsp: ENSP00000402308.1:p.Arg56His
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.114+53G>A
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.167G>A
  hgvsp: ENSP00000357592.1:p.Arg56His
  variant of: http://identifiers.org/hgnc/18854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg56His
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-153941186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941186
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941186
    reference: chr 1
allele count: 2
allele frequency: 1.689760054072322e-5
allele num: 118360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.230+11C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.174+11C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.236C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.114+71C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.174+11C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.529+11C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.174+11C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.114+71C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.168+71C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.174+11C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.174+11C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.358+71C>T
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-21+11C>T
  variant of: http://identifiers.org/hgnc/18854
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-153941186-CGAGTGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 153941186
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 153941180
    reference: chr 1
allele count: 1
allele frequency: 8.448800270361608e-6
allele num: 118360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000271889
  ensembl transcript: ENST00000271889
  gene symbol: CREB3L4
  hgvsc: ENST00000271889.4:c.174+19_174+24delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357592
  ensembl transcript: ENST00000368603
  gene symbol: CREB3L4
  hgvsc: ENST00000368603.1:c.174+19_174+24delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000473340
  gene symbol: CREB3L4
  hgvsc: ENST00000473340.1:n.244_249delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357589
  ensembl transcript: ENST00000368600
  gene symbol: CREB3L4
  hgvsc: ENST00000368600.3:c.114+79_114+84delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000391847
  ensembl transcript: ENST00000449724
  gene symbol: CREB3L4
  hgvsc: ENST00000449724.1:c.114+79_114+84delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000385104
  ensembl transcript: ENST00000405694
  gene symbol: CREB3L4
  hgvsc: ENST00000405694.3:c.-21+19_-21+24delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000461688
  gene symbol: CREB3L4
  hgvsc: ENST00000461688.1:n.358+79_358+84delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357596
  ensembl transcript: ENST00000368607
  gene symbol: CREB3L4
  hgvsc: ENST00000368607.3:c.174+19_174+24delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000492729
  gene symbol: CREB3L4
  hgvsc: ENST00000492729.1:n.168+79_168+84delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000479010
  gene symbol: CREB3L4
  hgvsc: ENST00000479010.1:n.230+19_230+24delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl transcript: ENST00000477617
  gene symbol: CREB3L4
  hgvsc: ENST00000477617.1:n.529+19_529+24delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000357590
  ensembl transcript: ENST00000368601
  gene symbol: CREB3L4
  hgvsc: ENST00000368601.1:c.174+19_174+24delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143578
  ensembl protein: ENSP00000402308
  ensembl transcript: ENST00000431292
  gene symbol: CREB3L4
  hgvsc: ENST00000431292.1:c.174+19_174+24delAGTGGG
  variant of: http://identifiers.org/hgnc/18854
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: CGAGTGG

GenotypeQuality
all individuals: 1071
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4908
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 243
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7158
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605187967510996e-5
allele num: 62298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15456
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.345411e6

VQSLOD
type: SiteQuality
SIO_000300: -2.415e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 5.57e0

FS
type: SiteQuality
SIO_000300: 2.105e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.561e0

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

GenotypeQuality
all individuals: 1012
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615352308338448e-5
allele num: 61906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

FS
type: SiteQuality
SIO_000300: 4.082e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

DP
type: SiteQuality
SIO_000300: 1.335035e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

QD
type: SiteQuality
SIO_000300: 1.108e1

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

GenotypeQuality
all individuals: 9800
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.637461834594451e-5
allele num: 15066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -3.02e-2

FS
type: SiteQuality
SIO_000300: 6.805e0

DP
type: SiteQuality
SIO_000300: 1.294808e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.286e0

QD
type: SiteQuality
SIO_000300: 1.095e1

GenotypeQuality
all individuals: 218
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4143
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.668557698725222e-5
allele num: 59932
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.284349e6

QD
type: SiteQuality
SIO_000300: 1.38e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.861e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.192e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

GenotypeQuality
all individuals: 1245
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 16407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.401541695865452e-4
allele num: 14270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7286
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.601e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.847e1

FS
type: SiteQuality
SIO_000300: 7.142e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 3.133e1

DP
type: SiteQuality
SIO_000300: 1.164264e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4298
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54800
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.011639321273313e-5
allele num: 14262
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.163936e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.032e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.729e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

GenotypeQuality
all individuals: 1149
bin: 5.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.902370353460412e-5
allele num: 52566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7016
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.242178447276941e-5
allele num: 13808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4068
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

DP
type: SiteQuality
SIO_000300: 1.110663e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.43e-1

FS
type: SiteQuality
SIO_000300: 9.401999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 80
bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46942
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.55247084952804e-4
allele num: 7204
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.592e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.609e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.86894e5

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: 2.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46244
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.50325705695674e-3
allele num: 11974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.293e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 9.67843e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.149e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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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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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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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.369331374686064e-5
allele num: 42206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3148
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.043e0

VQSLOD
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SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 8.68881e5

GenotypeQuality
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bin: 9.25e1
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: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.404834865509023e-4
allele num: 5874
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2646
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 36522
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

QD
type: SiteQuality
SIO_000300: 8.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 7.46513e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-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
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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35766
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.369668246445498e-3
allele num: 422
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2602
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.56e1

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.33746e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

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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GenotypeQuality
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GenotypeQuality
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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: 2454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5582
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.968503937007874e-4
allele num: 5080
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.289e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.025e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

DP
type: SiteQuality
SIO_000300: 7.09863e5

QD
type: SiteQuality
SIO_000300: 6.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

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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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.980891719745223e-5
allele num: 25120
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.973e0

QD
type: SiteQuality
SIO_000300: 1.487e1

DP
type: SiteQuality
SIO_000300: 5.50302e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

GenotypeQuality
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bin: 5.25e1
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: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.665080444142307e-5
allele num: 17652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.45e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.307e0

VQSLOD
type: SiteQuality
SIO_000300: -2.081e0

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.73304e5

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-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
all individuals: 112
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.257822277847309e-5
allele num: 15980
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1004
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.874e0

VQSLOD
type: SiteQuality
SIO_000300: -1.157e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2520
num of homozygotes: 0

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

African
type: Population
allele count: 15
allele frequency: 4.767959313413859e-3
allele num: 3146
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.834305717619603e-4
allele num: 1714
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 158
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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FS
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

European (Non-Finnish)
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Latino
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East Asian
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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DP
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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DP
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MQRankSum
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.090807937194783e-5
allele num: 64708
num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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Other
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

South Asian
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allele num: 15248
num of homozygotes: 0

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

European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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East Asian
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Other
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.531065315246348e-5
allele num: 65314
num of homozygotes: 0

Other
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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
allele num: 11382
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -5.0e-4

FS
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.25e1
variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.273074474856779e-4
allele num: 15710
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

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

QD
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SIO_000300: 1.51e1

FS
type: SiteQuality
SIO_000300: 2.323e0

VQSLOD
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ReadPosRankSum
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SIO_000300: 7.97e-1

ClippingRankSum
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SIO_000300: 6.8e-2

InbreedingCoeff
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SIO_000300: -5.0e-4

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 6.0e-1

DP
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SIO_000300: 1.538056e6

BaseQRankSum
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SIO_000300: -1.396e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 765
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525832341542311e-5
allele num: 65538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
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

Latino
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allele count: 0
allele frequency: 0.0e0
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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

ReadPosRankSum
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SIO_000300: 5.0e-1

DP
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SIO_000300: 1.544242e6

ClippingRankSum
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SIO_000300: 8.19e-1

MQRankSum
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MQ
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SIO_000300: 5.956e1

FS
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SIO_000300: 6.96e-1

BaseQRankSum
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SIO_000300: 2.67e0

InbreedingCoeff
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SIO_000300: 4.0e-4

VQSLOD
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SIO_000300: 3.63e0

QD
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SIO_000300: 1.322e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 310
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.37324910738808e-4
allele num: 65538
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

South Asian
type: Population
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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

InbreedingCoeff
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SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
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SIO_000300: 8.19e-1

VQSLOD
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ReadPosRankSum
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DP
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SIO_000300: 1.544242e6

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

BaseQRankSum
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SIO_000300: 2.67e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 208
bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

South Asian
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 count: 1
allele frequency: 1.517865274278255e-5
allele num: 65882
num of homozygotes: 0

East Asian
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allele frequency: 9.869948908499768e-3
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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BaseQRankSum
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SIO_000300: -1.187e0

MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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VQSLOD
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FS
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QD
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ReadPosRankSum
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SIO_000300: 4.29e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.363058096565093e-4
allele num: 66028
num of homozygotes: 0

East Asian
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allele count: 6
allele frequency: 6.963788300835655e-4
allele num: 8616
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.962e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
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
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num of homozygotes: 0

East Asian
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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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.53295457979511e-5
allele num: 66182
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
all individuals: 4690
bin: 9.75e1
variant carriers: 35

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509251713000694e-5
allele num: 66258
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

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

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

African
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allele count: 33
allele frequency: 3.195197521301317e-3
allele num: 10328
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.307e0

BaseQRankSum
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SIO_000300: -1.798e0

ClippingRankSum
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SIO_000300: -1.44e-1

QD
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
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SIO_000300: 3.41e0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.117704637220115e-5
allele num: 16346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQRankSum
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SIO_000300: 1.0e-2

ClippingRankSum
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QD
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.798e0

MQ
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SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.307e0

InbreedingCoeff
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SIO_000300: 1.1e-3

DP
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SIO_000300: 1.587548e6

GenotypeDepth
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.301e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
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SIO_000300: -1.03e0

VQSLOD
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DP
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SIO_000300: 1.59193e6

BaseQRankSum
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SIO_000300: 1.92e0

MQRankSum
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SIO_000300: 5.570000000000001e-1

QD
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SIO_000300: 1.727e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1989
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.52106817770812e-5
allele num: 66356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.593479e6

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8632
num of homozygotes: 0

Latino
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allele count: 25
allele frequency: 2.169009196598994e-3
allele num: 11526
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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
allele num: 66372
num of homozygotes: 0

DP
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InbreedingCoeff
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QD
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MQ
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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SIO_000300: -1.02e-1

MQRankSum
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SIO_000300: 7.5e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.007880647295915e-5
allele num: 66492
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MQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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DP
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MQ
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2009
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
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African
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East Asian
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South Asian
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QD
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ClippingRankSum
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MQ
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DP
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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South Asian
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East Asian
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DP
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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Latino
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Other
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South Asian
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European (Finnish)
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

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

South Asian
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European (Non-Finnish)
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East Asian
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Latino
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African
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MQRankSum
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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ClippingRankSum
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DP
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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African
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Other
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European (Finnish)
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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Other
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South Asian
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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FS
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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African
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European (Non-Finnish)
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QD
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MQ
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VQSLOD
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DP
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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SIO_000300: 1.604466e6

QD
type: SiteQuality
SIO_000300: 1.464e1

VQSLOD
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SIO_000300: -1.451e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 8.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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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

DP
type: SiteQuality
SIO_000300: 1.603832e6

InbreedingCoeff
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FS
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SIO_000300: 4.561e0

ClippingRankSum
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SIO_000300: -8.37e-1

QD
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SIO_000300: 1.099e1

BaseQRankSum
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SIO_000300: -3.724e0

VQSLOD
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SIO_000300: 1.22e0

MQRankSum
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SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
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SIO_000300: 1.28e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -1.373e0

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.357e0

VQSLOD
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SIO_000300: 1.77e0

ReadPosRankSum
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SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

DP
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SIO_000300: 1.602778e6

MQ
type: SiteQuality
SIO_000300: 5.99e1

FS
type: SiteQuality
SIO_000300: 2.428e0

QD
type: SiteQuality
SIO_000300: 1.148e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.023797284630038e-5
allele num: 66142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.763e0

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

ClippingRankSum
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SIO_000300: -6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 6.7e0

MQ
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SIO_000300: 5.995e1

ReadPosRankSum
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SIO_000300: -3.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 1.596233e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 45

GenotypeQuality
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GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592464569650881e-4
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 42
allele frequency: 4.108784973586382e-3
allele num: 10222
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66150
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
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FS
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 1.598273e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

Latino
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allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

African
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allele count: 40
allele frequency: 3.930045195519749e-3
allele num: 10178
num of homozygotes: 0

South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

Other
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MQRankSum
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 8628
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 count: 0
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
allele num: 66064
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

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

African
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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FS
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MQ
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SIO_000300: 5.96e1

DP
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ClippingRankSum
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SIO_000300: 9.419999999999999e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.515610791148833e-5
allele num: 65980
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 frequency: 0.0e0
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num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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MQ
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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DP
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MQ
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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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: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4791
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3762
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5100
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1673
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65044
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 1.576077e6

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 2.366e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeDepth
all individuals: 73
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5079
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4793
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64664
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

DP
type: SiteQuality
SIO_000300: 1.568679e6

FS
type: SiteQuality
SIO_000300: 1.0884e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -9.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

QD
type: SiteQuality
SIO_000300: 1.459e1

GenotypeDepth
all individuals: 628
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 7.25e1
variant carriers: 0